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

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.

Detalles Bibliográficos
Autores principales: Abdi Rad, Isa, Vahabi, Ali, Akbariazar, Elinaz
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2020
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7869383/
https://www.ncbi.nlm.nih.gov/pubmed/33598235
http://dx.doi.org/10.1002/ccr3.3637
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author Abdi Rad, Isa
Vahabi, Ali
Akbariazar, Elinaz
author_facet Abdi Rad, Isa
Vahabi, Ali
Akbariazar, Elinaz
author_sort Abdi Rad, Isa
collection PubMed
description 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.
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spelling pubmed-78693832021-02-16 A novel GTPBP2 splicing mutation in two siblings affected with microcephaly, generalized muscular atrophy, and hypotrichosis Abdi Rad, Isa Vahabi, Ali Akbariazar, Elinaz Clin Case Rep Case Reports 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. John Wiley and Sons Inc. 2020-12-07 /pmc/articles/PMC7869383/ /pubmed/33598235 http://dx.doi.org/10.1002/ccr3.3637 Text en © 2020 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd. This is an open access article under the terms of the http://creativecommons.org/licenses/by-nc-nd/4.0/ License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non‐commercial and no modifications or adaptations are made.
spellingShingle Case Reports
Abdi Rad, Isa
Vahabi, Ali
Akbariazar, Elinaz
A novel GTPBP2 splicing mutation in two siblings affected with microcephaly, generalized muscular atrophy, and hypotrichosis
title A novel GTPBP2 splicing mutation in two siblings affected with microcephaly, generalized muscular atrophy, and hypotrichosis
title_full A novel GTPBP2 splicing mutation in two siblings affected with microcephaly, generalized muscular atrophy, and hypotrichosis
title_fullStr A novel GTPBP2 splicing mutation in two siblings affected with microcephaly, generalized muscular atrophy, and hypotrichosis
title_full_unstemmed A novel GTPBP2 splicing mutation in two siblings affected with microcephaly, generalized muscular atrophy, and hypotrichosis
title_short A novel GTPBP2 splicing mutation in two siblings affected with microcephaly, generalized muscular atrophy, and hypotrichosis
title_sort novel gtpbp2 splicing mutation in two siblings affected with microcephaly, generalized muscular atrophy, and hypotrichosis
topic Case Reports
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7869383/
https://www.ncbi.nlm.nih.gov/pubmed/33598235
http://dx.doi.org/10.1002/ccr3.3637
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