Holt-Oram syndrome: clinical and molecular description of 78 patients with TBX5 variants

Holt-Oram syndrome (HOS) is an autosomal dominant condition characterised by the association of congenital heart defect (CHD), with or without rhythm disturbances and radial defects, due to TBX5 variants. The diagnosis is challenged by the variability of expression and the large phenotypic overlap w...

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Detalhes bibliográficos
Publicado no:Eur J Hum Genet
Main Authors: Vanlerberghe, Clémence, Jourdain, Anne-Sophie, Ghoumid, Jamal, Frenois, Frédéric, Mezel, Aurélie, Vaksmann, Guy, Lenne, Bruno, Delobel, Bruno, Porchet, Nicole, Cormier-Daire, Valérie, Smol, Thomas, Escande, Fabienne, Manouvrier-Hanu, Sylvie, Petit, Florence
Formato: Artigo
Idioma:Inglês
Publicado em: Springer International Publishing 2018
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6460573/
https://ncbi.nlm.nih.gov/pubmed/30552424
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41431-018-0303-3
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