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

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

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.

Bibliographic Details
Main Authors: Isa Abdi Rad, Ali Vahabi, Elinaz Akbariazar
Format: Article
Language:English
Published: Wiley 2021-02-01
Series:Clinical Case Reports
Subjects:
GTPBP2 gene
hypotrichosis
microcephaly
muscular dystrophy
Online Access:https://doi.org/10.1002/ccr3.3637
Description
Summary: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.
ISSN:2050-0904

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