Lab News / Our paper on Townes-Brocks Syndrome mechanism is out!

2018/02/01
Our paper on Townes-Brocks Syndrome mechanism is out!
The American Journal of Human Genetics
The American Journal of Human Genetics (2018), 102, 249–265. doi: 10.1016/j.ajhg.2017.12.017.
Truncated SALL1 impedes primary cilia function in Townes-Brocks Syndrome.
Bozal-Basterra L, Martín-Ruíz I, Pirone L, Liang Y, Sigurdsson JO, Gonzalez-Santamarta M, Giordano I, Gabicagogeascoa E, de Luca A, Rodríguez JA, Wilkie AOM, Kohlhase J, Eastwood D, Yale C, Olsen JV, Rauchman M, Anderson KV, Sutherland JD*, Barrio R*.
PMID: 29395072