المؤلفون: Schnabel F; Institute of Human Genetics, University Medical Center Göttingen, Heinrich-Düker-Weg 12, 37073, Göttingen, Germany.; Institute of Human Genetics, University of Leipzig Hospitals and Clinics, 04103, Leipzig, Germany., Schuler E; Division of Paediatric Epileptology, Centre for Paediatrics and Adolescent Medicine, University Hospital Heidelberg, Im Neuenheimer Feld 430, 69120, Heidelberg, Germany., Al-Maawali A; Department of Genetics, College of Medicine and Health Sciences, Sultan Qaboos University, Muscat, Oman.; Genetic and Developmental Medicine Clinic, Sultan Qaboos University Hospital, Muscat, Oman., Chaurasia A; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India.; Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, M13 9PL, UK., Syrbe S; Division of Paediatric Epileptology, Centre for Paediatrics and Adolescent Medicine, University Hospital Heidelberg, Im Neuenheimer Feld 430, 69120, Heidelberg, Germany., Al-Kindi A; Department of Genetics, College of Medicine and Health Sciences, Sultan Qaboos University, Muscat, Oman.; Genetic and Developmental Medicine Clinic, Sultan Qaboos University Hospital, Muscat, Oman., Bhavani GS; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India., Shukla A; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India., Altmüller J; Cologne Center for Genomics (CCG), Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany.; Core Facility Genomics, Berlin Institute of Health at Charité - Universitätsmedizin Berlin, Berlin, Germany.; Max Delbrück Center for Molecular Medicine in the Helmholtz Association (MDC), Berlin, Germany.; Center for Molecular Medicine Cologne (CMMC), Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany., Nürnberg P; Cologne Center for Genomics (CCG), Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany.; Center for Molecular Medicine Cologne (CMMC), Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany., Banka S; Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, M13 9PL, UK.; Manchester Centre for Genomic Medicine, Health Innovation Manchester, St Mary's Hospital, Manchester University NHS Foundation Trust, Manchester, M13 9WL, UK., Girisha KM; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India., Li Y; Institute of Human Genetics, University Medical Center Göttingen, Heinrich-Düker-Weg 12, 37073, Göttingen, Germany., Wollnik B; Institute of Human Genetics, University Medical Center Göttingen, Heinrich-Düker-Weg 12, 37073, Göttingen, Germany. bernd.wollnik@med.uni-goettingen.de.; Cluster of Excellence 'Multiscale Bioimaging: From Molecular Machines To Networks of Excitable Cells' (MBExC), University of Göttingen, 37073, Göttingen, Germany. bernd.wollnik@med.uni-goettingen.de.; DZHK (German Centre for Cardiovascular Research), Partner Site Göttingen, Göttingen, Germany. bernd.wollnik@med.uni-goettingen.de., Yigit G; Institute of Human Genetics, University Medical Center Göttingen, Heinrich-Düker-Weg 12, 37073, Göttingen, Germany. goekhan.yigit@med.uni-goettingen.de.; DZHK (German Centre for Cardiovascular Research), Partner Site Göttingen, Göttingen, Germany. goekhan.yigit@med.uni-goettingen.de.

المصدر: Human genetics [Hum Genet] 2023 Apr; Vol. 142 (4), pp. 543-552. Date of Electronic Publication: 2023 Mar 21.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Springer Verlag Country of Publication: Germany NLM ID: 7613873 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-1203 (Electronic) Linking ISSN: 03406717 NLM ISO Abbreviation: Hum Genet Subsets: MEDLINE

مواضيع طبية MeSH: Arthrogryposis*/genetics , Microcephaly*/genetics , Contracture*, Humans ; Homozygote ; Phenotype ; Pedigree ; Carrier Proteins/genetics ; Cytoskeletal Proteins/genetics

المؤلفون: Seidahmed MZ; Deparment of Pediatrics, Security Forces Hospital, Riyadh, Saudi Arabia., Al-Kindi A; Department of Genetics, College of Medicine and Health Sciences, Sultan Qaboos University, Muscat, Oman.; Genetic and Developmental Medicine Clinic, Sultan Qaboos University Hospital, Muscat, Oman., Alsaif HS; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Miqdad A; Deparment of Pediatrics, Security Forces Hospital, Riyadh, Saudi Arabia., Alabbad N; Department of Obstetrics and Gynaecology, Security Forces Hospital, Riyadh, Saudi Arabia., Alfifi A; Deparment of Pediatrics, Security Forces Hospital, Riyadh, Saudi Arabia., Abdelbasit OB; Deparment of Pediatrics, Security Forces Hospital, Riyadh, Saudi Arabia., Alhussein K; Deparment of Pediatrics, Security Forces Hospital, Riyadh, Saudi Arabia., Alsamadi A; Deparment of Pediatrics, Security Forces Hospital, Riyadh, Saudi Arabia., Ibrahim N; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Al-Futaisi A; Department of Child Health, College of Medicine and Health Sciences, Sultan Qaboos University, Muscat, Oman., Al-Maawali A; Department of Genetics, College of Medicine and Health Sciences, Sultan Qaboos University, Muscat, Oman. almaawali@squ.edu.om.; Genetic and Developmental Medicine Clinic, Sultan Qaboos University Hospital, Muscat, Oman. almaawali@squ.edu.om., Alkuraya FS; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia. falkuraya@kfshrc.edu.sa.; Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh, Saudi Arabia. falkuraya@kfshrc.edu.sa.

المصدر: Human genetics [Hum Genet] 2020 Apr; Vol. 139 (4), pp. 513-519. Date of Electronic Publication: 2020 Jan 20.

نوع المنشور: Case Reports; Clinical Trial; Journal Article; Multicenter Study

بيانات الدورية: Publisher: Springer Verlag Country of Publication: Germany NLM ID: 7613873 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-1203 (Electronic) Linking ISSN: 03406717 NLM ISO Abbreviation: Hum Genet Subsets: MEDLINE

مواضيع طبية MeSH: Arthrogryposis*/diagnostic imaging , Arthrogryposis*/genetics , Arthrogryposis*/pathology , Genes, Recessive* , Loss of Function Mutation* , Pedigree*, Protein Serine-Threonine Kinases/*genetics, Adult ; Child, Preschool ; Female ; Humans ; Infant ; Infant, Newborn ; Male ; Syndrome