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

• 主要な著者: Paulo Breno Noronha Liberalesso (著者), Mara L. Cordeiro (著者), Simone Carreiro Vieira Karuta (著者), Karyn Regina Jordão Koladicz (著者), Anderson Nitsche (著者), Bianca Simone Zeigelboim (著者), Salmo Raskin (著者), Michael Rauchman (著者)
• フォーマット: 図書
• 出版事項: BMC, 2017-11-01T00:00:00Z.
• 主題: article
• オンライン･アクセス: 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...