Truncated SALL1 impedes primary cilia function in Townes-Brocks Syndrome

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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Autors principals: Bozal-Basterra, L, Martín-Ruíz, M, Pirone, L, Liang, Y, Otti Sigurdsson, J, Gonzalez-Santamarta, M, Giordano, I, Gabicagogeascoa, E, de Luca, A, Rodríguez, J, Wilkie, A, Kohlhase, J, Eastwood, D, Yale, C, Olsen, J, Rauchman, M, Anderson, K, Sutherland, J, Barrio, R
Format: Journal article
Publicat: Cell Press 2018

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