Phenotypic and genotypic aspects of Townes-Brock syndrome:...

BMC Medical Genetics 2017 / 12 Vol. 18; Iss. 1

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

Liberalesso, Paulo Breno Noronha, Cordeiro, Mara L., Karuta, Simone Carreiro Vieira, Koladicz, Karyn Regina Jordão, Nitsche, Anderson, Zeigelboim, Bianca Simone, Raskin, Salmo, Rauchman, Michael
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Volume:
18
Language:
english
Journal:
BMC Medical Genetics
DOI:
10.1186/s12881-017-0483-7
Date:
December, 2017
File:
PDF, 602 KB
english, 2017
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