Extending the Mutation Spectrum for Galloway–Mowat Syndrome to Include Homozygous Missense Mutations in the WDR73 Gene

Galloway–Mowat syndrome is a rare autosomal-recessive disorder classically described as the combination of microcephaly and nephrotic syndrome. Recently, homozygous truncating mutations in WDR73 (WD repeat domain 73) were described in two of 31 unrelated families with Galloway–Mowat syndrome which w...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Publicado no:Am J Med Genet A
Main Authors: Rosti, Rasim O., Dikoglu, Esra, Zaki, Maha S., Abdel-Salam, Ghada, Makhseed, Nawal, Sese, Jordan C., Musaev, Damir, Rosti, Basak, Harbert, Mary J., Jones, Marilyn C., Vaux, Keith K., Gleeson, Joseph G.
Formato: Artigo
Idioma:Inglês
Publicado em: 2016
Assuntos:
Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5011457/
https://ncbi.nlm.nih.gov/pubmed/27001912
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.37533
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados