Ontology highlight
ABSTRACT:
SUBMITTER: Tanaka AJ
PROVIDER: S-EPMC5701309 | biostudies-literature | 2017 Nov
REPOSITORIES: biostudies-literature
Cold Spring Harbor molecular case studies 20171121 6
Using whole-exome sequencing, we identified seven unrelated individuals with global developmental delay, hypotonia, dysmorphic facial features, and an increased frequency of short stature, ataxia, and autism with de novo heterozygous frameshift, nonsense, splice, and missense variants in the <i>Early B-cell Transcription Factor Family Member 3</i> (<i>EBF3</i>) gene. EBF3 is a member of the collier/olfactory-1/early B-cell factor (COE) family of proteins, which are required for central nervous s ...[more]