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...

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שמור ב:
מידע ביבליוגרפי
הוצא לאור ב: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
פורמט: Artigo
שפה:Inglês
יצא לאור: Elsevier 2018
נושאים:
Article
גישה מקוונת: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
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