A novel GTPBP2 splicing mutation in two siblings affected with microcephaly, generalized muscular atrophy, and hypotrichosis

Abstract

Abstract A novel splice site mutation in the GTPBP2 gene was identified by whole‐exome sequencing in two siblings with microcephaly and progressive generalized muscular atrophy associated with hypotrichosis.

Keywords

• GTPBP2 gene
• hypotrichosis
• microcephaly
• muscular dystrophy