المؤلفون: Stantz AM; Division of Geriatric Medicine and Gerontology, Mayo Clinic, Rochester, MN., Newman JS; Division of Geriatric Medicine and Gerontology, Mayo Clinic, Rochester, MN; Division of Hospital Medicine, Mayo Clinic, Rochester, MN. Electronic address: Newman.James@mayo.edu.

المصدر: Mayo Clinic proceedings [Mayo Clin Proc] 2024 Jul; Vol. 99 (7), pp. 1187. Date of Electronic Publication: 2024 May 18.

نوع المنشور: Journal Article; Case Reports

بيانات الدورية: Publisher: [Oxford, England] Country of Publication: England NLM ID: 0405543 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1942-5546 (Electronic) Linking ISSN: 00256196 NLM ISO Abbreviation: Mayo Clin Proc Subsets: MEDLINE

مواضيع طبية MeSH: Hamartoma Syndrome, Multiple*/diagnosis , Hamartoma Syndrome, Multiple*/genetics, Humans

المؤلفون: Gerasimenko A; Sorbonne Université, Institut du Cerveau - Paris Brain Institute - ICM, Inserm, CNRS, Hôpital la Pitié Salpêtrière, Paris, France.; APHP.Sorbonne Université, GH Pitié Salpêtrière et Trousseau, Service de Génétique, Centre de référence 'déficiences intellectuelles de causes rares', Paris, France., Mignot C; Sorbonne Université, Institut du Cerveau - Paris Brain Institute - ICM, Inserm, CNRS, Hôpital la Pitié Salpêtrière, Paris, France.; APHP.Sorbonne Université, GH Pitié Salpêtrière et Trousseau, Service de Génétique, Centre de référence 'déficiences intellectuelles de causes rares', Paris, France., Naggara O; Université Paris Cité, INSERM UMR 1266 IMA-BRAIN, GHU Paris, Service de Neuroradiologie, Paris, France.; APHP.Université Paris Cité, Institut Imagine, INSERM U1000, Hôpital Necker - Enfants Malades, Service de Radiologie Pédiatrique UMR 1163, Paris, France.; APHP.Université Paris Cité, Centre Français pour les AVC Pédiatriques, INSERM U894, Paris, France., Coulet F; Sorbonne Université, INSERM, Unité Mixte de Recherche Scientifique 938 et SIRIC CURAMUS, Centre de Recherche Saint-Antoine, Equipe Instabilité des Microsatellites et Cancer, Paris, France.; Département de Génétique Médicale, APHP.Sorbonne Université, Hôpital Pitié-Salpêtrière, Paris, France., Ekram S; Department of Medical Genetics, College of Medicine, Umm Al-Qura University, Mecca, Saudi Arabia., Heide S; APHP.Sorbonne Université, GH Pitié Salpêtrière et Trousseau, Service de Génétique, Centre de référence 'déficiences intellectuelles de causes rares', Paris, France., Sorato C; APHP.Sorbonne Université, GH Pitié Salpêtrière et Trousseau, Service de Génétique, Centre de référence 'déficiences intellectuelles de causes rares', Paris, France., Mazowiecki M; APHP.Sorbonne Université, GH Pitié Salpêtrière et Trousseau, Service de Génétique, Centre de référence 'déficiences intellectuelles de causes rares', Paris, France., Perrin L; APHP.Université Paris Cité, Hôpital Robert-Debré, Service de Génétique, Paris, France., Colas C; Université Paris Sciences Lettres, Institut Curie, Service de Génétique, Paris, France., Cusin V; Département de Génétique Médicale, APHP.Sorbonne Université, Hôpital Pitié-Salpêtrière, Paris, France., Caux F; GH Paris Seine-Saint-Denis, INSERM UMR1125, Service de Dermatologie, Bobigny, France., Dardenne A; APHP.Sorbonne Université, Hôpital Saint-Antoine, Oncologie Gigestive, Paris, France., El Chehadeh S; Hôpitaux Universitaires de Strasbourg, Hôpital de Hautepierre, Institut de Génétique Médicale d'Alsace (IGMA), Service de Génétique Médicale, Strasbourg, France., Verloes A; APHP.Université Paris Cité, Hôpital Robert-Debré, Service de Génétique, Paris, France.; INSERM U1141, Hôpital Robert-Debré, Paris, France., Maurey H; Hôpitaux Universitaires Paris Saclay, Hôpital Bicêtre, Centre National de Référence pour les Maladies Rares du Cerveau et de la Moelle Épinière, Service de Neurologie Pédiatrique, Le Kremlin Bicêtre, France., Afenjar A; Groupe d'Étude Interdisciplinaire pour les Malformations Vasculaires, Hôpitaux Lariboisière, Bichat, Saint-Joseph, Clinique Alma, Paris, France., Petit F; APHP.Sorbonne Université, GH Trousseau, Département de Génétique, Centre de référence 'déficiences intellectuelles de causes rares', Paris, France., Barete S; Université de Lille, ULR7364 RADEME, CHU Lille, Clinique de Génétique, Guy Fontaine, Lille, France., Boespflug-Tanguy O; APHP.Sorbonne Université, GH Pitié-Salpêtrière, Service de Dermatologie, Paris, France.; APHP.Université Paris Cité, Hôpital Robert Debré, Service de Neuropédiatrie, Paris, France., Bourrat E; Université Paris Cité, NeuroDiderot, UMR 1141, Paris, France., Capri Y; APHP.Université Paris Cité, Hôpital Robert-Debré, Service de Génétique, Paris, France., Ciorna V; Hôpital-Saint Louis, CRMR MAGEC Nord St Louis, Service de Dermatologie, Paris, France., Deb W; CHR Metz-Thionville, Service de Génétique, Metz, France., Doummar D; CHU Nantes, Service de Génétique Médicale, Nantes, France., Perrier A; Sorbonne Université, INSERM, Unité Mixte de Recherche Scientifique 938 et SIRIC CURAMUS, Centre de Recherche Saint-Antoine, Equipe Instabilité des Microsatellites et Cancer, Paris, France.; Département de Génétique Médicale, APHP.Sorbonne Université, Hôpital Pitié-Salpêtrière, Paris, France., Guédon A; APHP.Sorbonne Université, CHU Armand Trousseau, Service de Neuropédiatrie-Pathologie du développement, Centre de Référence Maladies Rares Neurogénétiques, Paris, France., Houdart E; APHP.Sorbonne Université, CHU Armand Trousseau, Service de Neuropédiatrie-Pathologie du développement, Centre de Référence Maladies Rares Neurogénétiques, Paris, France., Isidor B; CHR Metz-Thionville, Service de Génétique, Metz, France., Jacquemont ML; APHP.Université Paris Cité, Service de Neuroradiologie Diagnostique et Interventionnelle, CHU Lariboisière, Paris, France., Buffet C; Service de Génétique Médicale, CHU Ste-Justine, Montréal, Canada., Mercier S; CHR Metz-Thionville, Service de Génétique, Metz, France., Passemard S; APHP.Sorbonne Université, Service de pathologies Thyroïdiennes et Tumorales Endocrines, Hôpital La Pitié-Salpêtrière, Paris, France., Riquet A; APHP.Université Paris Cité, Inserm UMR 1141, NeuroDiderotFrance, Hôpital Robert Debré, Service de Neurologie Pédiatrique, DMU INOV-RDB, Paris, France., Ruaud L; APHP.Université Paris Cité, Hôpital Robert-Debré, Service de Génétique, Paris, France.; INSERM U1141, Hôpital Robert-Debré, Paris, France., Schaefer E; Département de Neurologie Pédiatrique, GHICL, Hôpital Saint Vincent de Paul, Lille, France., Heron D; Sorbonne Université, Institut du Cerveau - Paris Brain Institute - ICM, Inserm, CNRS, Hôpital la Pitié Salpêtrière, Paris, France.; APHP.Sorbonne Université, GH Pitié Salpêtrière et Trousseau, Service de Génétique, Centre de référence 'déficiences intellectuelles de causes rares', Paris, France., Bisdorff A; APHP.Sorbonne Université, CHU Armand Trousseau, Service de Neuropédiatrie-Pathologie du développement, Centre de Référence Maladies Rares Neurogénétiques, Paris, France.; CHU de Strasbourg, Service de Génétique Médicale, IGMA, Strasbourg, France., Benusiglio PR; Sorbonne Université, INSERM, Unité Mixte de Recherche Scientifique 938 et SIRIC CURAMUS, Centre de Recherche Saint-Antoine, Equipe Instabilité des Microsatellites et Cancer, Paris, France.; Département de Génétique Médicale, APHP.Sorbonne Université, Hôpital Pitié-Salpêtrière, Paris, France.

المصدر: Clinical genetics [Clin Genet] 2024 Jul; Vol. 106 (1), pp. 90-94. Date of Electronic Publication: 2024 Feb 29.

نوع المنشور: Journal Article; Case Reports

بيانات الدورية: Publisher: Munksgaard Country of Publication: Denmark NLM ID: 0253664 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1399-0004 (Electronic) Linking ISSN: 00099163 NLM ISO Abbreviation: Clin Genet Subsets: MEDLINE

مواضيع طبية MeSH: PTEN Phosphohydrolase*/genetics , Central Nervous System Vascular Malformations*/genetics , Central Nervous System Vascular Malformations*/complications , Central Nervous System Vascular Malformations*/diagnostic imaging , Central Nervous System Vascular Malformations*/diagnosis , Hamartoma Syndrome, Multiple*/genetics , Hamartoma Syndrome, Multiple*/complications, Humans ; Adult ; Female ; Male ; Young Adult ; Magnetic Resonance Imaging ; Mutation

المؤلفون: Ozato T; Department of Gastroenterology, Okayama University Hospital, Japan., Yamasaki Y; Department of Gastroenterology, Okayama University Hospital, Japan., Inokuchi T; Department of Gastroenterology, Okayama University Hospital, Japan., Otsuka M; Department of Gastroenterology, Okayama University Hospital, Japan.

المصدر: Internal medicine (Tokyo, Japan) [Intern Med] 2024 Jul 01; Vol. 63 (13), pp. 1959-1960. Date of Electronic Publication: 2023 Nov 20.

نوع المنشور: Case Reports; Journal Article

بيانات الدورية: Publisher: Japanese Society of Internal Medicine Country of Publication: Japan NLM ID: 9204241 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1349-7235 (Electronic) Linking ISSN: 09182918 NLM ISO Abbreviation: Intern Med Subsets: MEDLINE

مواضيع طبية MeSH: Ganglioneuroma*/complications , Ganglioneuroma*/diagnostic imaging , Ganglioneuroma*/diagnosis , Ganglioneuroma*/pathology , Hamartoma Syndrome, Multiple*/complications , Hamartoma Syndrome, Multiple*/diagnosis , Hamartoma Syndrome, Multiple*/genetics, Humans ; Colorectal Neoplasms/complications ; Colorectal Neoplasms/diagnosis ; Female ; Male ; Adult ; Middle Aged

المؤلفون: Martín-Valbuena J; Department of Pediatrics, University Hospital of Salamanca, Salamanca, Spain., Gestoso-Uzal N; Institute for Biomedical Research of Salamanca, IBSAL, Salamanca, Spain.; Department of Medicine, University of Salamanca, Salamanca, Spain., Justel-Rodríguez M; Department of Pediatrics, University Hospital of Salamanca, Salamanca, Spain., Isidoro-García M; Institute for Biomedical Research of Salamanca, IBSAL, Salamanca, Spain.; Clinical Biochemistry Department, University Hospital of Salamanca, Salamanca, Spain., Marcos-Vadillo E; Institute for Biomedical Research of Salamanca, IBSAL, Salamanca, Spain.; Clinical Biochemistry Department, University Hospital of Salamanca, Salamanca, Spain., Lorenzo-Hernández SM; Clinical Biochemistry Department, University Hospital of Salamanca, Salamanca, Spain., Criado-Muriel MC; Department of Pediatrics, University Hospital of Salamanca, Salamanca, Spain. mccriado@saludcastillayleon.es.; Institute for Biomedical Research of Salamanca, IBSAL, Salamanca, Spain. mccriado@saludcastillayleon.es.; Department of Biomedical and Diagnostic Sciences, University of Salamanca, Salamanca, Spain. mccriado@saludcastillayleon.es., Prieto-Matos P; Department of Pediatrics, University Hospital of Salamanca, Salamanca, Spain.; Institute for Biomedical Research of Salamanca, IBSAL, Salamanca, Spain.; Department of Biomedical and Diagnostic Sciences, University of Salamanca, Salamanca, Spain.

المصدر: Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery [Childs Nerv Syst] 2024 Jun; Vol. 40 (6), pp. 1689-1697. Date of Electronic Publication: 2024 Feb 26.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Springer International Country of Publication: Germany NLM ID: 8503227 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1433-0350 (Electronic) Linking ISSN: 02567040 NLM ISO Abbreviation: Childs Nerv Syst Subsets: MEDLINE

مواضيع طبية MeSH: PTEN Phosphohydrolase*/genetics , Hamartoma Syndrome, Multiple*/genetics , Hamartoma Syndrome, Multiple*/diagnostic imaging, Humans ; Female ; Male ; Child ; Child, Preschool ; Adolescent ; Retrospective Studies ; Infant ; Mutation/genetics ; Megalencephaly/genetics ; Megalencephaly/diagnostic imaging

المؤلفون: Tömböl Z; Department of Medicine and Oncology, ENETS Center of Excellence, Faculty of Medicine, Semmelweis University, Budapest, Hungary.; Division of Endocrinology, 2nd Department of Medicine, Health Center, Hungarian Defense Forces, Budapest, Hungary., Tőke J; Department of Medicine and Oncology, ENETS Center of Excellence, Faculty of Medicine, Semmelweis University, Budapest, Hungary., Tóth G; Department of Endocrinology, Szent Lázár County Hospital, Salgótarján, Hungary., Varga Z; Medical Imaging Centre, Department of Nuclear Medicine, Semmelweis University, Budapest, Hungary., Balázs E; Medical Imaging Centre, Department of Radiology, Semmelweis University, Budapest, Hungary., Tóth E; National Institute of Oncology, Department of Surgical and Molecular Pathology, Tumour Pathology Center, Budapest, Hungary., Gergely L; Institute of Medical Biology, Genetics and Clinical Genetics, Faculty of Medicine, Comenius University in Bratislava, University Hospital Bratislava, Bratislava, Slovak Republic., Danihel Ľ; Institute of Pathological Anatomy, Faculty of Medicine, Comenius University in Bratislava, Bratislava, Slovak Republic., Medvecz M; Department of Dermatology, Venereology and Dermatooncology, ERN-Skin HCP, Faculty of Medicine, Semmelweis University, Budapest, Hungary., Borka K; Department of Pathology, Forensic and Insurance Medicine, Faculty of Medicine, Semmelweis University, Budapest, Hungary., Tóth M; Department of Medicine and Oncology, ENETS Center of Excellence, Faculty of Medicine, Semmelweis University, Budapest, Hungary. toth.miklos@med.semmelweis-univ.hu.

المصدر: Endocrine [Endocrine] 2024 Jun; Vol. 84 (3), pp. 880-884. Date of Electronic Publication: 2024 Feb 14.

نوع المنشور: Case Reports; Journal Article

بيانات الدورية: Publisher: Humana Press Country of Publication: United States NLM ID: 9434444 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1559-0100 (Electronic) Linking ISSN: 1355008X NLM ISO Abbreviation: Endocrine Subsets: MEDLINE

مواضيع طبية MeSH: Hamartoma Syndrome, Multiple*/genetics , Hamartoma Syndrome, Multiple*/complications , Hamartoma Syndrome, Multiple*/pathology , Hamartoma Syndrome, Multiple*/diagnosis , Carcinoid Tumor*/complications , Carcinoid Tumor*/genetics , Carcinoid Tumor*/pathology , Carcinoid Tumor*/diagnosis, Humans ; Middle Aged ; Male ; Bronchial Neoplasms/genetics ; Bronchial Neoplasms/diagnostic imaging ; Bronchial Neoplasms/complications ; Bronchial Neoplasms/pathology ; Bronchial Neoplasms/diagnosis ; PTEN Phosphohydrolase/genetics

المؤلفون: Martinez-Rios C; Department of Diagnostic and Interventional Radiology, The Hospital for Sick Children, Department of Radiology, University of Toronto, 555 University Avenue, Toronto, ON, M5G1X8, Canada. claudia.martinezrios@sickkids.ca., De Leon Benedetti LS; Department of Radiology, Children's Hospital of Philadelphia, University of Pennsylvania, Philadelphia, PA, 19104, USA., Tierradentro-Garcia LO; Department of Radiology, Children's Hospital of Philadelphia, University of Pennsylvania, Philadelphia, PA, 19104, USA., Kilicarslan OA; Medical Imaging Department, Children's Hospital of Eastern Ontario, University of Ottawa, Ottawa, ON, K1H8L1, Canada., Caro-Dominguez P; Unidad de Radiologia Pediatrica, Servicio de Radiodiagnostico, Hospital Universitario Virgen del Rocio Sevilla, Sevilla, 41013, Spain., Otero HJ; Department of Radiology, Children's Hospital of Philadelphia, University of Pennsylvania, Philadelphia, PA, 19104, USA.

المصدر: Pediatric radiology [Pediatr Radiol] 2024 Jun; Vol. 54 (7), pp. 1116-1127. Date of Electronic Publication: 2024 Apr 22.

نوع المنشور: Journal Article; Multicenter Study

بيانات الدورية: Publisher: Springer-Verlag Country of Publication: Germany NLM ID: 0365332 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-1998 (Electronic) Linking ISSN: 03010449 NLM ISO Abbreviation: Pediatr Radiol Subsets: MEDLINE

مواضيع طبية MeSH: Hamartoma Syndrome, Multiple*/diagnostic imaging , Hamartoma Syndrome, Multiple*/genetics , PTEN Phosphohydrolase*/genetics, Humans ; Female ; Male ; Child ; Retrospective Studies ; Adolescent ; Cross-Sectional Studies ; Child, Preschool ; Infant ; Mutation

المؤلفون: Pîrlog LM; Department of Molecular Sciences, Faculty of Medicine, University of Medicine and Pharmacy 'Iuliu Hațieganu', 400012 Cluj-Napoca, Romania., Pătrășcanu AA; Department of Molecular Sciences, Faculty of Medicine, University of Medicine and Pharmacy 'Iuliu Hațieganu', 400012 Cluj-Napoca, Romania., Militaru MS; Department of Molecular Sciences, Faculty of Medicine, University of Medicine and Pharmacy 'Iuliu Hațieganu', 400012 Cluj-Napoca, Romania.; Regional Laboratory Cluj-Napoca, Department of Medical Genetics, Regina Maria Health Network, 400363 Cluj-Napoca, Romania., Cătană A; Department of Molecular Sciences, Faculty of Medicine, University of Medicine and Pharmacy 'Iuliu Hațieganu', 400012 Cluj-Napoca, Romania.; Regional Laboratory Cluj-Napoca, Department of Medical Genetics, Regina Maria Health Network, 400363 Cluj-Napoca, Romania.; Department of Oncogenetics, 'Prof. Dr. I. Chiricuță' Institute of Oncology, 400015 Cluj-Napoca, Romania.

المصدر: Medicina (Kaunas, Lithuania) [Medicina (Kaunas)] 2024 May 06; Vol. 60 (5). Date of Electronic Publication: 2024 May 06.

نوع المنشور: Journal Article; Review

بيانات الدورية: Publisher: MDPI Country of Publication: Switzerland NLM ID: 9425208 Publication Model: Electronic Cited Medium: Internet ISSN: 1648-9144 (Electronic) Linking ISSN: 1010660X NLM ISO Abbreviation: Medicina (Kaunas) Subsets: MEDLINE

مواضيع طبية MeSH: Hamartoma Syndrome, Multiple*/genetics , Hamartoma Syndrome, Multiple*/diagnosis , PTEN Phosphohydrolase*/genetics, Female ; Humans ; Proteus Syndrome/genetics ; Proteus Syndrome/diagnosis ; Male

المؤلفون: Hartsough E; Department of Pathology, Massachusetts General Hospital, Boston, MA, US., DeSimone MS; Department of Pathology, Brigham and Women's Hospital, Boston, MA, US.; Department of Pathology, Harvard Medical School, Boston, MA, US., Lorenzo ME; Department of Pathology, Harvard Medical School, Boston, MA, US.; Department of Dermatology, Massachusetts General Hospital and Harvard Medical School, Boston, MA, US., Dias-Santagata D; Department of Pathology, Massachusetts General Hospital, Boston, MA, US.; Department of Pathology, Harvard Medical School, Boston, MA, US., Nose V; Department of Pathology, Massachusetts General Hospital, Boston, MA, US.; Department of Pathology, Harvard Medical School, Boston, MA, US., Hoang MP; Department of Pathology, Massachusetts General Hospital, Boston, MA, US.; Department of Pathology, Harvard Medical School, Boston, MA, US.

المصدر: American journal of clinical pathology [Am J Clin Pathol] 2024 May 02; Vol. 161 (5), pp. 490-500.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Oxford University Press Country of Publication: England NLM ID: 0370470 Publication Model: Print Cited Medium: Internet ISSN: 1943-7722 (Electronic) Linking ISSN: 00029173 NLM ISO Abbreviation: Am J Clin Pathol Subsets: MEDLINE

مواضيع طبية MeSH: Hamartoma Syndrome, Multiple*/diagnosis , Hamartoma Syndrome, Multiple*/pathology , Hamartoma Syndrome, Multiple*/genetics , PTEN Phosphohydrolase*/metabolism , PTEN Phosphohydrolase*/genetics , Immunohistochemistry*, Humans ; Female ; Middle Aged ; Adult ; Retrospective Studies ; Male ; Aged ; Biomarkers, Tumor/metabolism ; Biomarkers, Tumor/analysis ; Skin Neoplasms/diagnosis ; Skin Neoplasms/pathology ; Skin Neoplasms/metabolism ; Thyroid Neoplasms/diagnosis ; Thyroid Neoplasms/pathology ; Thyroid Neoplasms/metabolism ; Thyroid Neoplasms/genetics ; Breast Neoplasms/diagnosis ; Breast Neoplasms/pathology ; Breast Neoplasms/metabolism ; Breast Neoplasms/genetics

المؤلفون: Salusti-Simpson M; Division of Dermatopathology, University of Vermont Medical Center, Burlington, Vermont, USA., Madrid M; Division of Dermatopathology, University of Vermont Medical Center, Burlington, Vermont, USA., Cook D; Division of Dermatopathology, University of Vermont Medical Center, Burlington, Vermont, USA.

المصدر: Journal of cutaneous pathology [J Cutan Pathol] 2024 May; Vol. 51 (5), pp. 345-347. Date of Electronic Publication: 2024 Feb 09.

نوع المنشور: Review; Case Reports

بيانات الدورية: Publisher: Wiley Country of Publication: United States NLM ID: 0425124 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1600-0560 (Electronic) Linking ISSN: 03036987 NLM ISO Abbreviation: J Cutan Pathol Subsets: MEDLINE

مواضيع طبية MeSH: Hamartoma Syndrome, Multiple*/complications , Hamartoma Syndrome, Multiple*/pathology , Skin Diseases*/pathology , Fibroma*/pathology , Skin Neoplasms*/pathology, Humans ; Giant Cells/pathology

المؤلفون: Peng Z; Department of Pulmonary and Critical Care Medicine, Ningde Municipal Hospital Affiliated to Ningde Normal University, Ningde, Fujian 352100, China. ndsyyzch01@163.com., Zhang C

المصدر: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics [Zhonghua Yi Xue Yi Chuan Xue Za Zhi] 2024 Jul 10; Vol. 41 (7), pp. 825-829.

نوع المنشور: Journal Article; Case Reports; English Abstract

بيانات الدورية: Publisher: Sichuan University Country of Publication: China NLM ID: 9425197 Publication Model: Print Cited Medium: Print ISSN: 1003-9406 (Print) Linking ISSN: 10039406 NLM ISO Abbreviation: Zhonghua Yi Xue Yi Chuan Xue Za Zhi Subsets: MEDLINE

مواضيع طبية MeSH: Hamartoma Syndrome, Multiple*/genetics , Pedigree* , PTEN Phosphohydrolase*/genetics, Adult ; Child ; Female ; Humans ; Male ; Asian People/genetics ; China ; East Asian People ; Exome Sequencing ; Genetic Testing ; Mutation