Ontology highlight
ABSTRACT:
SUBMITTER: McSherry M
PROVIDER: S-EPMC6267965 | biostudies-literature | 2018
REPOSITORIES: biostudies-literature
McSherry Megan M Masih Katherine E KE Elcioglu Nursel H NH Celik Pelin P Balci Ozge O Cengiz Filiz Basak FB Nunez Daniella D Sineni Claire J CJ Seyhan Serhat S Kocaoglu Defne D Guo Shengru S Duman Duygu D Bademci Guney G Tekin Mustafa M
PloS one 20181130 11
The etiology of intellectual disability (ID) is heterogeneous including a variety of genetic and environmental causes. Historically, most research has not focused on autosomal recessive ID (ARID), which is a significant cause of ID, particularly in areas where parental consanguinity is common. Identification of genetic causes allows for precision diagnosis and improved genetic counseling. We performed whole exome sequencing to 21 Turkish families, seven multiplex and 14 simplex, with nonsyndromi ...[more]