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...

Full description

Bibliographic Details
Main Authors: 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
Published: Cell Press 2018