A homozygous mutation in the stem II domain of RNU4ATAC causes typical Roifman syndrome

Roifman syndrome (OMIM# 616651) is a complex syndrome encompassing skeletal dysplasia, immunodeficiency, retinal dystrophy and developmental delay, and is caused by compound heterozygous mutations involving the Stem II region and one of the other domains of the RNU4ATAC gene. This small nuclear RNA...

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Detalhes bibliográficos
Publicado no:NPJ Genom Med
Main Authors: Dinur Schejter, Yael, Ovadia, Adi, Alexandrova, Roumiana, Thiruvahindrapuram, Bhooma, Pereira, Sergio L., Manson, David E., Vincent, Ajoy, Merico, Daniele, Roifman, Chaim M.
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group UK 2017
Assuntos:
Case Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5677950/
https://ncbi.nlm.nih.gov/pubmed/29263834
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41525-017-0024-5
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