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

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 syndrom...

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Detalles Bibliográficos
Autores principales: Liberalesso, Paulo Breno Noronha, Cordeiro, Mara L., Karuta, Simone Carreiro Vieira, Koladicz, Karyn Regina Jordão, Nitsche, Anderson, Zeigelboim, Bianca Simone, Raskin, Salmo, Rauchman, Michael
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2017
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5674755/
https://www.ncbi.nlm.nih.gov/pubmed/29110636
http://dx.doi.org/10.1186/s12881-017-0483-7

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