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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Foilsithe in: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
Formáid: Artigo
Teanga:Inglês
Foilsithe: Springer International Publishing 2018
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Article
Rochtain Ar Líne: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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