Phenotypic and genotypic aspects of Townes-Brock syndrome: case report of patient in southern Brazil with a new SALL1 hotspot region nonsense mutation

by Paulo Breno Noronha Liberalesso, Mara L. Cordeiro, Simone Carreiro Vieira Karuta, Karyn Regina Jordão Koladicz, Anderson Nitsche, Bianca Simone Zeigelboim, Salmo Raskin, Michael Rauchman
Published 2017-11-01

A family with Townes-Brocks syndrome with congenital hypothyroidism and a novel mutation of the gene

by Won Ik Choi, Ji Hye Kim, Han Wook Yoo, Sung Hee Oh
Published 2010-12-01

LUZP1, a novel regulator of primary cilia and the actin cytoskeleton, is a contributing factor in Townes-Brocks Syndrome

by Laura Bozal-Basterra, María Gonzalez-Santamarta, Veronica Muratore, Aitor Bermejo-Arteagabeitia, Carolina Da Fonseca, Orhi Barroso-Gomila, Mikel Azkargorta, Ibon Iloro, Olatz Pampliega, Ricardo Andrade, Natalia Martín-Martín, Tess C Branon, Alice Y Ting, Jose A Rodríguez, Arkaitz Carracedo, Felix Elortza, James D Sutherland, Rosa Barrio
Published 2020-06-01

Whole-exome sequencing identified a novel heterozygous mutation of SALL1 and a new homozygous mutation of PTPRQ in a Chinese family with Townes-Brocks syndrome and hearing loss

by Guangxian Yang, Yi Yin, Zhiping Tan, Jian Liu, Xicheng Deng, Yifeng Yang
Published 2021-01-01

Townes-Brocks syndrome with overlapping features of hemifacial microsomia

by Yadavalli Guruprasad, Dinesh Singh Chauhan
Published 2013-01-01