Phenotypic and genotypic aspects of Townes-Brock syndrome: case report of patient in southern Brazil...
Phenotypic and genotypic aspects of Townes-Brock syndrome: case report of patient in southern Brazil with a new SALL1 hotspot region nonsense mutation
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England: BioMed Central Ltd
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Language
English
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England: BioMed Central Ltd
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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 syndromes.
Here, we present the case of a 5-year-old Brazilian boy...
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Phenotypic and genotypic aspects of Townes-Brock syndrome: case report of patient in southern Brazil with a new SALL1 hotspot region nonsense mutation
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TN_cdi_doaj_primary_oai_doaj_org_article_2c4ca548767c4e9fb5896733abe96cc4
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_2c4ca548767c4e9fb5896733abe96cc4
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ISSN
1471-2350
E-ISSN
1471-2350
DOI
10.1186/s12881-017-0483-7
