Ontology highlight
ABSTRACT:
SUBMITTER: Al-Mamari W
PROVIDER: S-EPMC10071987 | biostudies-literature | 2023
REPOSITORIES: biostudies-literature
Al-Mamari Watfa W Idris Ahmed B AB Al-Thihli Khalid K Abdulrahim Reem R Jalees Saquib S Al-Jabri Muna M Gabr Ahlam A Al Murshedi Fathiya F Al Kindy Adila A Al-Hadabi Intisar I Bruwer Zandrè Z Islam M Mazharul MM Alsayegh Abeer A
International journal of developmental disabilities 20210621 2
This study aimed to systematically assess the impact of clinical and demographic variables on the diagnostic yield of Whole Exome Sequencing (WES) when applied to children with Autism Spectrum Disorder (ASD) from a consanguineous population. Ninety-seven children were included in the analysis, 63% were male and 37% were females. 77.3% had a suspected syndromic aetiology of which 68% had co-existent central nervous system (CNS) clinical features, while 69% had other systems involved. The diagnost ...[more]