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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Detalhes bibliográficos
Publicado no:BMC Med Genet
Main Authors: 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: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2017
Assuntos:
Case Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5674755/
https://ncbi.nlm.nih.gov/pubmed/29110636
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12881-017-0483-7
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