المؤلفون: Almannai M; Genetics and Precision Medicine department (GPM), King Abdullah Specialized Children's Hospital (KASCH), King Abdulaziz Medical City, Ministry of National Guard Health Affairs (MNG-HA), Riyadh, Saudi Arabia.; Medical Genomics Research Department, King Abdullah International Medical Research Center, Ministry of National Guard Health Affairs, King Saud Bin Abdulaziz University for Health Sciences, Ministry of National Guard Health Affairs, Riyadh, Saudi Arabia., Marafi D; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Department of Pediatrics, College of Medicine, Kuwait University, Safat, Kuwait., Zaki MS; Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt.; Genetics Department, Armed Forces College of Medicine (AFCM), Cairo, Egypt., Maroofian R; Department of Neuromuscular disorders, UCL Queen Square Institute of Neurology, University College London, London, UK., Efthymiou S; Department of Neuromuscular disorders, UCL Queen Square Institute of Neurology, University College London, London, UK., Saadi NW; College of Medicine, University of Baghdad, Pediatric Neurology, Children Welfare Teaching Hospital, Baghdad, Iraq., Filimban B; Section of Medical Genetics, Children's Hospital, King Fahad Medical City, Riyadh, Saudi Arabia., Dafsari HS; Department of Pediatrics, Center for Rare Diseases, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany.; Randall Centre for Cell and Molecular Biophysics, Faculty of Life Sciences and Medicine (FoLSM), King's College London, London, UK.; Max-Planck-Institute for Biology of Ageing, Cologne, Germany.; Cologne Excellence Cluster on Cellular Stress Responses in Aging Associated Diseases (CECAD), Cologne, Germany., Rahman F; Department of Developmental - Behavioral Pediatrics, University of Child Health Sciences & The Children's Hospital, Lahore, Pakistan., Maqbool S; Department of Developmental - Behavioral Pediatrics, University of Child Health Sciences & The Children's Hospital, Lahore, Pakistan., Faqeih E; Section of Medical Genetics, Children's Hospital, King Fahad Medical City, Riyadh, Saudi Arabia., Al Mutairi F; Genetics and Precision Medicine department (GPM), King Abdullah Specialized Children's Hospital (KASCH), King Abdulaziz Medical City, Ministry of National Guard Health Affairs (MNG-HA), Riyadh, Saudi Arabia.; Medical Genomics Research Department, King Abdullah International Medical Research Center, Ministry of National Guard Health Affairs, King Saud Bin Abdulaziz University for Health Sciences, Ministry of National Guard Health Affairs, Riyadh, Saudi Arabia., Alsharhan H; Department of Pediatrics, College of Medicine, Kuwait University, Safat, Kuwait.; Department of Pediatrics, Farwaniya Hospital, Ministry of Health, Sabah Al-Nasser, Kuwait.; Kuwait Medical Genetics Center, Ministry of Health, Sulaibikhat, Kuwait.; Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA., Abdelaty O; Department of Pediatrics, Farwaniya Hospital, Ministry of Health, Sabah Al-Nasser, Kuwait., Bin-Hasan S; Department of Pediatrics, Farwaniya Hospital, Ministry of Health, Sabah Al-Nasser, Kuwait., Duan R; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA., Noureldeen MM; Department of Pediatrics, Faculty of Medicine, Beni-Suef University, Beni-Suef, Egypt., Alqattan A; Department of Pediatrics, Farwaniya Hospital, Ministry of Health, Sabah Al-Nasser, Kuwait., Houlden H; Department of Neuromuscular disorders, UCL Queen Square Institute of Neurology, University College London, London, UK., Hunter JV; Texas Children Hospital, Houston, Texas, USA.; Department of Radiology, Baylor College of Medicine, Houston, Texas, USA., Posey JE; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA., Lupski JR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Texas Children Hospital, Houston, Texas, USA.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA.; Department of Pediatrics, Baylor College of Medicine, Houston, Texas, USA., El-Hattab AW; Department of Clinical Sciences, College of Medicine, University of Sharjah, Sharjah, United Arab Emirates.; Genetics Clinics, University Hospital Sharjah, Sharjah, United Arab Emirates.

المصدر: Clinical genetics [Clin Genet] 2024 Jun; Vol. 105 (6), pp. 620-629. Date of Electronic Publication: 2024 Feb 14.

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

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: Neurodevelopmental Disorders*/genetics , Neurodevelopmental Disorders*/pathology , Phenotype*, Adolescent ; Child ; Child, Preschool ; Female ; Humans ; Infant ; Male ; Brain/diagnostic imaging ; Brain/pathology ; Developmental Disabilities/genetics ; Developmental Disabilities/pathology ; Genetic Association Studies ; Genetic Predisposition to Disease ; Intellectual Disability/genetics ; Intellectual Disability/pathology ; Mutation ; Pedigree