Truncated SALL1 Impedes Primary Cilia Function in Townes-Brocks Syndrome

Townes-Brocks syndrome (TBS) is characterized by a spectrum of malformations in the digits, ears, and kidneys. These anomalies overlap those seen in a growing number of ciliopathies, which are genetic syndromes linked to defects in the formation or function of the primary cilia. TBS is caused by mut...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Publicado no:Am J Hum Genet
Main Authors: Bozal-Basterra, Laura, Martín-Ruíz, Itziar, Pirone, Lucia, Liang, Yinwen, Sigurðsson, Jón Otti, Gonzalez-Santamarta, Maria, Giordano, Immacolata, Gabicagogeascoa, Estibaliz, de Luca, Angela, Rodríguez, Jose A., Wilkie, Andrew O.M., Kohlhase, Jürgen, Eastwood, Deborah, Yale, Christopher, Olsen, Jesper V., Rauchman, Michael, Anderson, Kathryn V., Sutherland, James D., Barrio, Rosa
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2018
Assuntos:
Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5985538/
https://ncbi.nlm.nih.gov/pubmed/29395072
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2017.12.017
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados