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

© 2020 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd..

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.

Medienart:

E-Artikel

Erscheinungsjahr:

2021

Erschienen:

2021

Enthalten in:

Zur Gesamtaufnahme - volume:9

Enthalten in:

Clinical case reports - 9(2021), 2 vom: 10. Feb., Seite 732-736

Sprache:

Englisch

Beteiligte Personen:

Abdi Rad, Isa [VerfasserIn]
Vahabi, Ali [VerfasserIn]
Akbariazar, Elinaz [VerfasserIn]

Links:

Volltext

Themen:

Case Reports
GTPBP2 gene
Hypotrichosis
Microcephaly
Muscular dystrophy

Anmerkungen:

Date Revised 19.02.2021

published: Electronic-eCollection

Citation Status PubMed-not-MEDLINE

doi:

10.1002/ccr3.3637

funding:

Förderinstitution / Projekttitel:

PPN (Katalog-ID):

NLM321570871