المؤلفون: Şimşek-Kiper PÖ; Department of Pediatrics, Division of Pediatric Genetics, Hacettepe University Faculty of Medicine, Ankara, Turkey., Karaosmanoğlu B; Department of Medical Genetics, Hacettepe University Faculty of Medicine, Ankara, Turkey., Taşkıran EZ; Department of Medical Genetics, Hacettepe University Faculty of Medicine, Ankara, Turkey., Türer ÖB; Department of Pediatric Surgery, Hacettepe University Faculty of Medicine, Ankara, Turkey., Utine GE; Department of Pediatrics, Division of Pediatric Genetics, Hacettepe University Faculty of Medicine, Ankara, Turkey., Soyer T; Department of Pediatric Surgery, Hacettepe University Faculty of Medicine, Ankara, Turkey.

المصدر: American journal of medical genetics. Part A [Am J Med Genet A] 2024 Sep; Vol. 194 (9), pp. e63629. Date of Electronic Publication: 2024 Apr 22.

نوع المنشور: Case Reports; Journal Article

بيانات الدورية: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE

مواضيع طبية MeSH: Ellis-Van Creveld Syndrome*/genetics , Ellis-Van Creveld Syndrome*/pathology , G-Protein-Coupled Receptor Kinase 2*/genetics , Hernias, Diaphragmatic, Congenital*/genetics , Hernias, Diaphragmatic, Congenital*/diagnostic imaging , Hernias, Diaphragmatic, Congenital*/pathology, Female ; Humans ; Exome Sequencing ; Mutation ; Phenotype ; Infant

SCR Disease Name: Jeune syndrome

المؤلفون: León-Madero LF; Medical Genetics Department, Hospital General de México Dr. Eduardo Liceaga, Mexico City, Mexico.; Facultad de Medicina, Universidad Nacional Autónoma de México, Mexico City, Mexico., Fregoso-Ron CH; Facultad de Medicina, Universidad Nacional Autónoma de México, Mexico City, Mexico.; Maternal Fetal Medicine Department, Hospital General de México Dr. Eduardo Liceaga, Mexico City, Mexico., De León-Carbajal JC; Maternal Fetal Medicine Department, Hospital General de México Dr. Eduardo Liceaga, Mexico City, Mexico., Valdés-Miranda JM; Medical Genetics Department, Hospital General de México Dr. Eduardo Liceaga, Mexico City, Mexico.

المصدر: Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2024 May; Vol. 12 (5), pp. e2451.

نوع المنشور: Case Reports; Journal Article

بيانات الدورية: Publisher: John Wiley & Sons Country of Publication: United States NLM ID: 101603758 Publication Model: Print Cited Medium: Internet ISSN: 2324-9269 (Electronic) Linking ISSN: 23249269 NLM ISO Abbreviation: Mol Genet Genomic Med Subsets: MEDLINE

مواضيع طبية MeSH: Cleft Palate*/genetics , Cleft Palate*/pathology , Ellis-Van Creveld Syndrome*/genetics , Ellis-Van Creveld Syndrome*/pathology , Phenotype*, Humans ; Mexico ; Male ; Female ; Intercellular Signaling Peptides and Proteins

المؤلفون: Altunoglu U; Medical Genetics Department, School of Medicine (KUSoM), Koç University, Istanbul, Turkey ualtunoglu@ku.edu.tr.; Medical Genetics Department, Istanbul Faculty of Medicine, Istanbul University, Fatih, Turkey., Palencia-Campos A; Consejo Superior de Investigaciones Científicas-Universidad Autónoma de Madrid, Instituto de Investigaciones Biomédicas Alberto Sols, Madrid, Spain.; CIBER de Enfermedades Raras, Instituto de Salud Carlos III, Madrid, Spain., Güneş N; Cerrahpasa Medical Faculty, Department of Pediatric Genetics, Istanbul Universitesi-Cerrahpasa, Istanbul, Turkey., Turgut GT; Medical Genetics Department, Istanbul Faculty of Medicine, Istanbul University, Fatih, Turkey., Nevado J; CIBER de Enfermedades Raras, Instituto de Salud Carlos III, Madrid, Spain.; Instituto de Genética Médica y Molecular (INGEMM), ITHACA-ERN, Hospital Universitario La Paz-IdiPAZ, Madrid, Spain., Lapunzina P; CIBER de Enfermedades Raras, Instituto de Salud Carlos III, Madrid, Spain.; Instituto de Genética Médica y Molecular (INGEMM), ITHACA-ERN, Hospital Universitario La Paz-IdiPAZ, Madrid, Spain., Valencia M; Consejo Superior de Investigaciones Científicas-Universidad Autónoma de Madrid, Instituto de Investigaciones Biomédicas Alberto Sols, Madrid, Spain., Iturrate A; Consejo Superior de Investigaciones Científicas-Universidad Autónoma de Madrid, Instituto de Investigaciones Biomédicas Alberto Sols, Madrid, Spain.; CIBER de Enfermedades Raras, Instituto de Salud Carlos III, Madrid, Spain., Otaify G; Department of Clinical Genetics, Institute of Human Genetics and Genome Research, National Research Centre, Cairo, Egypt., Elhossini R; Department of Clinical Genetics, Institute of Human Genetics and Genome Research, National Research Centre, Cairo, Egypt., Ashour A; Department of Clinical Genetics, Institute of Human Genetics and Genome Research, National Research Centre, Cairo, Egypt., K Amin A; Department of Human Genetics, Medical Research Institute, Alexandria University, Alexandria, Egypt., Elnahas RF; Department of Human Genetics, Medical Research Institute, Alexandria University, Alexandria, Egypt., Fernandez-Nuñez E; Consejo Superior de Investigaciones Científicas-Universidad Autónoma de Madrid, Instituto de Investigaciones Biomédicas Alberto Sols, Madrid, Spain., Flores CL; Consejo Superior de Investigaciones Científicas-Universidad Autónoma de Madrid, Instituto de Investigaciones Biomédicas Alberto Sols, Madrid, Spain.; CIBER de Enfermedades Raras, Instituto de Salud Carlos III, Madrid, Spain., Arias P; Instituto de Genética Médica y Molecular (INGEMM), ITHACA-ERN, Hospital Universitario La Paz-IdiPAZ, Madrid, Spain., Tenorio J; CIBER de Enfermedades Raras, Instituto de Salud Carlos III, Madrid, Spain.; Instituto de Genética Médica y Molecular (INGEMM), ITHACA-ERN, Hospital Universitario La Paz-IdiPAZ, Madrid, Spain., Chamorro Fernández CI; Sección de Cardiología, Hospital Virgen de los Lirios de Alcoy, Alicante, Spain., Güven Y; Department of Pedodontics, Faculty of Dentistry, Istanbul University, Istanbul, Turkey., Özsu E; Department of Pediatric Endocrinology and Diabetes, School of Medicine, Ankara University, Ankara, Turkey., Eklioğlu BS; Division of Pediatric Endocrinology, Department of Pediatrics, Necmettin Erbakan University, Konya, Turkey., Ibarra-Ramirez M; Departamento de Genética, Facultad de Medicina, Universidad Autónoma de Nuevo León, Nuevo Leon, Mexico., Diness BR; Department of Clinical Genetics, Copenhagen University Hospital - Rigshospitalet, Copenhagen, Denmark.; Department of Clinical Medicine, Faculty of Health, University of Copenhagen, Kobenhavn, Denmark., Burnyte B; Department of Human and Medical Genetics, Institute of Biomedical Sciences, Faculty of Medicine, Vilnius University, Vilnius, Lithuania., Ajmi H; Service de Pédiatrie, Centre Hôspitalier Universitaire (CHU) Sahloul, Sousse, Tunisia., Yüksel Z; Human Genetics Department, Bioscientia Healthcare GmbH, Ingelheim, Germany., Yıldırım R; Department of Pediatric Endocrinology, Ministry of Health Diyarbakir Children's Hospital, Diyarbakir, Turkey., Ünal E; Department of Pediatric Endocrinology, Faculty of Medicine, Dicle University, Diyarbakir, Turkey., Abdalla E; Department of Human Genetics, Medical Research Institute, Alexandria University, Alexandria, Egypt., Aglan M; Department of Clinical Genetics, Institute of Human Genetics and Genome Research, National Research Centre, Cairo, Egypt., Kayserili H; Medical Genetics Department, School of Medicine (KUSoM), Koç University, Istanbul, Turkey., Tuysuz B; Cerrahpasa Medical Faculty, Department of Pediatric Genetics, Istanbul Universitesi-Cerrahpasa, Istanbul, Turkey., Ruiz-Pérez V; Consejo Superior de Investigaciones Científicas-Universidad Autónoma de Madrid, Instituto de Investigaciones Biomédicas Alberto Sols, Madrid, Spain.; CIBER de Enfermedades Raras, Instituto de Salud Carlos III, Madrid, Spain.; Instituto de Genética Médica y Molecular (INGEMM), ITHACA-ERN, Hospital Universitario La Paz-IdiPAZ, Madrid, Spain.

المصدر: Journal of medical genetics [J Med Genet] 2024 Jun 20; Vol. 61 (7), pp. 633-644. Date of Electronic Publication: 2024 Jun 20.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: British Medical Association Country of Publication: England NLM ID: 2985087R Publication Model: Electronic Cited Medium: Internet ISSN: 1468-6244 (Electronic) Linking ISSN: 00222593 NLM ISO Abbreviation: J Med Genet Subsets: MEDLINE

مواضيع طبية MeSH: Ellis-Van Creveld Syndrome*/genetics , Ellis-Van Creveld Syndrome*/pathology , Phenotype* , Pedigree*, Humans ; Male ; Female ; Child ; Membrane Proteins/genetics ; Mutation ; Child, Preschool ; Zinc Finger Protein Gli3/genetics ; Adolescent ; Adult ; Nerve Tissue Proteins/genetics ; Cohort Studies ; Infant ; Proteins/genetics ; Retrospective Studies ; Intercellular Signaling Peptides and Proteins

المؤلفون: Hameed M; Department of Radiology, National Institute of Child Health, Karachi, Pakistan., Jesrani AK; Department of Radiology, Sindh Institute of Urology and Transplantation, Karachi, Pakistan., Tariq SM; Department of Radiology, National Institute of Child Health, Karachi, Pakistan., Hanif H; Department of Radiology, National Institute of Child Health, Karachi, Pakistan., Bansari S; Department of Radiology, National Institute of Child Health, Karachi, Pakistan., Kumar A; Department of Radiology, National Institute of Child Health, Karachi, Pakistan.

المصدر: JPMA. The Journal of the Pakistan Medical Association [J Pak Med Assoc] 2024 Feb; Vol. 74 (2), pp. 391-393.

نوع المنشور: Case Reports; Journal Article

بيانات الدورية: Publisher: Pakistan Medical Association Country of Publication: Pakistan NLM ID: 7501162 Publication Model: Print Cited Medium: Internet ISSN: 0030-9982 (Print) Linking ISSN: 00309982 NLM ISO Abbreviation: J Pak Med Assoc Subsets: MEDLINE

مواضيع طبية MeSH: Ellis-Van Creveld Syndrome*/complications , Ellis-Van Creveld Syndrome*/diagnosis , Polydactyly*/diagnosis , Heart Defects, Congenital*, Female ; Child ; Humans ; Fingers

المؤلفون: Ferraresso LFOT; Department of Oral Medicine and Dentistry for Children, State University of Londrina, Londrina, PR, Brazil., Fagundes FAU; Department of Oral Medicine and Dentistry for Children, State University of Londrina, Londrina, PR, Brazil., Padovese M; Department of Oral Medicine and Dentistry for Children, State University of Londrina, Londrina, PR, Brazil., Singi P; Department of Oral Medicine and Dentistry for Children, State University of Londrina, Londrina, PR, Brazil., Paiva MF; Department of Oral Medicine and Dentistry for Children, State University of Londrina, Londrina, PR, Brazil., Inagaki-Nomura LT; Department of Oral Medicine and Dentistry for Children, State University of Londrina, Londrina, PR, Brazil., Dezan-Garbelini CC; Department of Oral Medicine and Dentistry for Children, State University of Londrina, Londrina, PR, Brazil., Boer FAC; Department of Oral Medicine and Dentistry for Children, State University of Londrina, Londrina, PR, Brazil.

المصدر: Special care in dentistry : official publication of the American Association of Hospital Dentists, the Academy of Dentistry for the Handicapped, and the American Society for Geriatric Dentistry [Spec Care Dentist] 2024 Jan-Feb; Vol. 44 (1), pp. 103-108. Date of Electronic Publication: 2023 Apr 11.

نوع المنشور: Case Reports

بيانات الدورية: Publisher: American Dental Association Country of Publication: United States NLM ID: 8103755 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1754-4505 (Electronic) Linking ISSN: 02751879 NLM ISO Abbreviation: Spec Care Dentist

مواضيع طبية MeSH: Ellis-Van Creveld Syndrome*/complications , Ellis-Van Creveld Syndrome*/diagnosis , Dental Caries* , Tooth Abnormalities*/diagnostic imaging , Tooth Abnormalities*/etiology , Fibroma*/complications, Male ; Child ; Humans ; Dental Pulp Cavity

عنوان ترانسليتريتد: Ein milder Fall des Jeune-Syndroms assoziiert mit einer wiederkehrenden Missense-Variante in DYNC2H1: Bestätigung einer Genotyp-Phänotyp-Korrelation.

المؤلفون: Oestreich MA; Division of Neonatology, Department of Paediatrics, Inselspital Universitätsspital Bern, University of Bern, Bern, Switzerland.; Division of Paediatric Respiratory Medicine and Allergology, Department of Paediatrics, University of Bern, Inselspital Universitätsspital Bern, Bern, Switzerland., Keller F; Division of Neonatology, Department of Paediatrics, Inselspital Universitätsspital Bern, University of Bern, Bern, Switzerland., Bovermann X; Division of Paediatric Respiratory Medicine and Allergology, Department of Paediatrics, University of Bern, Inselspital Universitätsspital Bern, Bern, Switzerland., Braun D; Department of Human Genetics, University of Bern, Inselspital Universitätsspital Bern, Bern, Switzerland., Schiller R; Department of Diagnostic, Interventional and Paediatric Radiology, University of Bern, Inselspital Universitätsspital Bern, Bern, Switzerland., Raio L; Department of Obstetrics and Gynecology, University of Bern, Inselspital Universitätsspital Bern, Bern, Switzerland., Zweier C; Department of Human Genetics, University of Bern, Inselspital Universitätsspital Bern, Bern, Switzerland., Casaulta C; Division of Paediatric Respiratory Medicine and Allergology, Department of Paediatrics, University of Bern, Inselspital Universitätsspital Bern, Bern, Switzerland., Usemann J; Division of Respiratory Medicine, UKBB, Basel, Switzerland.; Division of Respiratory Medicine, Universitäts-Kinderspital Zürich, Zürich, Switzerland., Kidszun A; Division of Neonatology, Department of Paediatrics, Inselspital Universitätsspital Bern, University of Bern, Bern, Switzerland., Popa-Todirenchi MH; Division of Neonatology, Department of Paediatrics, Inselspital Universitätsspital Bern, University of Bern, Bern, Switzerland.

المصدر: Klinische Padiatrie [Klin Padiatr] 2024 Feb; Vol. 236 (2), pp. 145-147. Date of Electronic Publication: 2024 Jan 15.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Ferdinand Enke Verlag Country of Publication: Germany NLM ID: 0326144 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1439-3824 (Electronic) Linking ISSN: 03008630 NLM ISO Abbreviation: Klin Padiatr Subsets: MEDLINE

مواضيع طبية MeSH: Ellis-Van Creveld Syndrome*/genetics, Humans ; Mutation ; Genetic Association Studies ; Phenotype ; Mutation, Missense ; Cytoplasmic Dyneins/genetics

SCR Disease Name: Jeune syndrome

المؤلفون: Peng Y; Prenatal Diagnosis Center, National Health Commission Key Laboratory of Birth Defects for Research and Prevention, Hunan Provincial Maternal and Child Health Care Hospital, Changsha, 410008, Hunan, China, No. 53 Xiangchun Road. pengyingpy@hotmail.com., Zhou L; Prenatal Diagnosis Center, National Health Commission Key Laboratory of Birth Defects for Research and Prevention, Hunan Provincial Maternal and Child Health Care Hospital, Changsha, 410008, Hunan, China, No. 53 Xiangchun Road., Chen J; Prenatal Diagnosis Center, National Health Commission Key Laboratory of Birth Defects for Research and Prevention, Hunan Provincial Maternal and Child Health Care Hospital, Changsha, 410008, Hunan, China, No. 53 Xiangchun Road., Huang X; Prenatal Diagnosis Center, National Health Commission Key Laboratory of Birth Defects for Research and Prevention, Hunan Provincial Maternal and Child Health Care Hospital, Changsha, 410008, Hunan, China, No. 53 Xiangchun Road., Pang J; Prenatal Diagnosis Center, National Health Commission Key Laboratory of Birth Defects for Research and Prevention, Hunan Provincial Maternal and Child Health Care Hospital, Changsha, 410008, Hunan, China, No. 53 Xiangchun Road., Liu J; Prenatal Diagnosis Center, National Health Commission Key Laboratory of Birth Defects for Research and Prevention, Hunan Provincial Maternal and Child Health Care Hospital, Changsha, 410008, Hunan, China, No. 53 Xiangchun Road., Tang W; Prenatal Diagnosis Center, National Health Commission Key Laboratory of Birth Defects for Research and Prevention, Hunan Provincial Maternal and Child Health Care Hospital, Changsha, 410008, Hunan, China, No. 53 Xiangchun Road., Yang S; Prenatal Diagnosis Center, National Health Commission Key Laboratory of Birth Defects for Research and Prevention, Hunan Provincial Maternal and Child Health Care Hospital, Changsha, 410008, Hunan, China, No. 53 Xiangchun Road., Liang C; Prenatal Diagnosis Center, National Health Commission Key Laboratory of Birth Defects for Research and Prevention, Hunan Provincial Maternal and Child Health Care Hospital, Changsha, 410008, Hunan, China, No. 53 Xiangchun Road., Xie W; Prenatal Diagnosis Center, National Health Commission Key Laboratory of Birth Defects for Research and Prevention, Hunan Provincial Maternal and Child Health Care Hospital, Changsha, 410008, Hunan, China, No. 53 Xiangchun Road. wanqinxie@126.com.

المصدر: BMC medical genomics [BMC Med Genomics] 2023 Dec 07; Vol. 16 (1), pp. 318. Date of Electronic Publication: 2023 Dec 07.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: BioMed Central Country of Publication: England NLM ID: 101319628 Publication Model: Electronic Cited Medium: Internet ISSN: 1755-8794 (Electronic) Linking ISSN: 17558794 NLM ISO Abbreviation: BMC Med Genomics Subsets: MEDLINE

مواضيع طبية MeSH: Ellis-Van Creveld Syndrome*/diagnostic imaging , Ellis-Van Creveld Syndrome*/genetics , Osteochondrodysplasias* , Polydactyly* , Ciliopathies*/diagnostic imaging , Ciliopathies*/genetics, Pregnancy ; Female ; Humans ; DNA Copy Number Variations ; Prenatal Diagnosis ; Cytoskeletal Proteins/genetics ; Adaptor Proteins, Signal Transducing/genetics

المؤلفون: Guha A; Department of Cardiac Anaesthesia, Narayana Superspeciality Hospital, Gurgaon, Haryana, India., Malhotra R; Department of Cardiac Anaesthesia, Narayana Superspeciality Hospital, Gurgaon, Haryana, India., Saxena R; Department of Cardiac Surgery, Narayana Superspeciality Hospital, Gurgaon, Haryana, India., Keshri VK; Department of Cardiac Surgery, Narayana Superspeciality Hospital, Gurgaon, Haryana, India.

المصدر: Annals of cardiac anaesthesia [Ann Card Anaesth] 2023 Jul-Sep; Vol. 26 (3), pp. 346-348.

نوع المنشور: Case Reports

بيانات الدورية: Publisher: Medknow Country of Publication: India NLM ID: 9815987 Publication Model: Print Cited Medium: Internet ISSN: 0974-5181 (Electronic) Linking ISSN: 09719784 NLM ISO Abbreviation: Ann Card Anaesth Subsets: MEDLINE

مواضيع طبية MeSH: Ellis-Van Creveld Syndrome*/complications , Ellis-Van Creveld Syndrome*/diagnostic imaging , Ellis-Van Creveld Syndrome*/surgery , Heart Defects, Congenital*/complications , Heart Defects, Congenital*/diagnostic imaging , Heart Defects, Congenital*/surgery , Polydactyly* , Anesthetics*, Female ; Humans ; Adolescent

SCR Disease Name: Partial atrioventricular canal

المؤلفون: Wang J; State Key Laboratory of Reproductive Regulation and Breeding of Grassland Livestock (RRBGL), Inner Mongolia University, Hohhot, 010070, China.; Department of Genetics, Inner Mongolia Maternity and Child Health Care Hospital, Hohhot, 010010, China., Wang X; Department of Genetics, Inner Mongolia Maternity and Child Health Care Hospital, Hohhot, 010010, China., Jia Y; Department of Genetics, Inner Mongolia Maternity and Child Health Care Hospital, Hohhot, 010010, China., Li X; State Key Laboratory of Reproductive Regulation and Breeding of Grassland Livestock (RRBGL), Inner Mongolia University, Hohhot, 010070, China., Liu G; Department of Ultrasonic Medicine, Inner Mongolia Maternity and Child Health Care Hospital, Hohhot, 010010, China., Sa R; State Key Laboratory of Reproductive Regulation and Breeding of Grassland Livestock (RRBGL), Inner Mongolia University, Hohhot, 010070, China., Yu H; State Key Laboratory of Reproductive Regulation and Breeding of Grassland Livestock (RRBGL), Inner Mongolia University, Hohhot, 010070, China.

المصدر: Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2023 Aug; Vol. 11 (8), pp. e2183. Date of Electronic Publication: 2023 May 09.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: John Wiley & Sons Country of Publication: United States NLM ID: 101603758 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2324-9269 (Electronic) Linking ISSN: 23249269 NLM ISO Abbreviation: Mol Genet Genomic Med Subsets: MEDLINE

مواضيع طبية MeSH: Membrane Proteins*/genetics , Ellis-Van Creveld Syndrome*/genetics, Humans ; Intercellular Signaling Peptides and Proteins/genetics ; Mutation ; Fetus

المؤلفون: Negrete-Torres N; Laboratorio de Genética y Oncología Molecular, Laboratorio 5, Edificio A4, Carrera de Médico Cirujano, Facultad de Estudios Superiores Iztacala, Universidad Nacional Autónoma de México, Tlalnepantla 54090, Mexico.; Laboratorio de Genética, Escuela Nacional de Ciencias Biológicas Zacatenco, Instituto Politécnico Nacional, Ciudad de México 07738, Mexico., Chima-Galán MDC; Centro Médico Nacional '20 de Noviembre', ISSSTE, Ciudad de México 03229, Mexico., Sierra-López EA; Centro Médico Nacional '20 de Noviembre', ISSSTE, Ciudad de México 03229, Mexico., Sánchez-Ramos J; Laboratorio de Genética y Oncología Molecular, Laboratorio 5, Edificio A4, Carrera de Médico Cirujano, Facultad de Estudios Superiores Iztacala, Universidad Nacional Autónoma de México, Tlalnepantla 54090, Mexico., Álvarez-González I; Laboratorio de Genética, Escuela Nacional de Ciencias Biológicas Zacatenco, Instituto Politécnico Nacional, Ciudad de México 07738, Mexico., Reyes-Reali J; Laboratorio de Inmunología, Unidad de Morfofisiología y Función, Facultad de Estudios Superiores Iztacala, Universidad Nacional Autónoma de México, Tlalnepantla 54090, Mexico., Mendoza-Ramos MI; Laboratorio de Inmunología, Unidad de Morfofisiología y Función, Facultad de Estudios Superiores Iztacala, Universidad Nacional Autónoma de México, Tlalnepantla 54090, Mexico., Garrido-Guerrero E; Departamento de Genética y Biología Molecular, CINVESTAV-IPN, Ciudad de México 07360, Mexico., Amato D; Laboratorio de Genética y Oncología Molecular, Laboratorio 5, Edificio A4, Carrera de Médico Cirujano, Facultad de Estudios Superiores Iztacala, Universidad Nacional Autónoma de México, Tlalnepantla 54090, Mexico., Méndez-Catalá CF; Laboratorio de Genética y Oncología Molecular, Laboratorio 5, Edificio A4, Carrera de Médico Cirujano, Facultad de Estudios Superiores Iztacala, Universidad Nacional Autónoma de México, Tlalnepantla 54090, Mexico.; División de Investigación y Posgrado, Facultad de Estudios Superiores Iztacala, Universidad Nacional Autónoma de México, Tlalnepantla 54090, Mexico., Pozo-Molina G; Laboratorio de Genética y Oncología Molecular, Laboratorio 5, Edificio A4, Carrera de Médico Cirujano, Facultad de Estudios Superiores Iztacala, Universidad Nacional Autónoma de México, Tlalnepantla 54090, Mexico., Méndez-Cruz AR; Laboratorio de Inmunología, Unidad de Morfofisiología y Función, Facultad de Estudios Superiores Iztacala, Universidad Nacional Autónoma de México, Tlalnepantla 54090, Mexico.

المصدر: Genes [Genes (Basel)] 2023 Apr 09; Vol. 14 (4). Date of Electronic Publication: 2023 Apr 09.

نوع المنشور: Case Reports; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: MDPI Country of Publication: Switzerland NLM ID: 101551097 Publication Model: Electronic Cited Medium: Internet ISSN: 2073-4425 (Electronic) Linking ISSN: 20734425 NLM ISO Abbreviation: Genes (Basel) Subsets: MEDLINE

مواضيع طبية MeSH: Membrane Proteins*/genetics , Ellis-Van Creveld Syndrome*/genetics , Ellis-Van Creveld Syndrome*/diagnosis, Humans ; Female ; Intercellular Signaling Peptides and Proteins/genetics ; Pedigree ; Mutation ; Codon, Nonsense