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

• Main Authors: Paulo Breno Noronha Liberalesso (Author), Mara L. Cordeiro (Author), Simone Carreiro Vieira Karuta (Author), Karyn Regina Jordão Koladicz (Author), Anderson Nitsche (Author), Bianca Simone Zeigelboim (Author), Salmo Raskin (Author), Michael Rauchman (Author)
• Format: Book
• Published: BMC, 2017-11-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract Background Townes-Brocks syndrome (TBS) is a rare autosomal dominant condition characterized by renal, anal, limb, and auditory abnormalities. TBS diagnosis can be challenging in settings where genetic analysis is not readily available. TBS traits overlap with those of Goldenhar and VACTERL...