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...

Descripción completa

Detalles Bibliográficos
Autores principales: Dinur Schejter, Yael, Ovadia, Adi, Alexandrova, Roumiana, Thiruvahindrapuram, Bhooma, Pereira, Sergio L., Manson, David E., Vincent, Ajoy, Merico, Daniele, Roifman, Chaim M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2017
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5677950/
https://www.ncbi.nlm.nih.gov/pubmed/29263834
http://dx.doi.org/10.1038/s41525-017-0024-5

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5677950/
https://www.ncbi.nlm.nih.gov/pubmed/29263834
http://dx.doi.org/10.1038/s41525-017-0024-5

Ejemplares similares