Open AccessA novel GTPBP2 splicing mutation in two siblings affected with microcephaly, generalized muscular atrophy, and hypotrichosis
Author(s) -
Abdi Rad Isa,
Vahabi Ali,
Akbariazar Elinaz
Publication year - 2021
Publication title -
clinical case reports
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.21
H-Index - 9
ISSN - 2050-0904
DOI - 10.1002/ccr3.3637
Subject(s) - microcephaly , hypotrichosis , medicine , exome sequencing , rna splicing , atrophy , mutation , genetics , gene , pathology , pediatrics , biology , rna
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.