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

• প্রধান লেখক: Paulo Breno Noronha Liberalesso (লেখক), Mara L. Cordeiro (লেখক), Simone Carreiro Vieira Karuta (লেখক), Karyn Regina Jordão Koladicz (লেখক), Anderson Nitsche (লেখক), Bianca Simone Zeigelboim (লেখক), Salmo Raskin (লেখক), Michael Rauchman (লেখক)
• বিন্যাস: গ্রন্থ
• প্রকাশিত: BMC, 2017-11-01T00:00:00Z.
• বিষয়গুলি: article
• অনলাইন ব্যবহার করুন: 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...