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

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

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...

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Bibliographic Details
Main Authors: Paulo Breno Noronha Liberalesso, Mara L. Cordeiro, Simone Carreiro Vieira Karuta, Karyn Regina Jordão Koladicz, Anderson Nitsche, Bianca Simone Zeigelboim, Salmo Raskin, Michael Rauchman
Format: Article
Language:English
Published: BMC 2017-11-01
Series:BMC Medical Genetics
Subjects:
Case report
Townes-Brock syndrome
Sall1 mutation
Pediatric
Online Access:http://link.springer.com/article/10.1186/s12881-017-0483-7

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http://link.springer.com/article/10.1186/s12881-017-0483-7

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