A novel de novo TBX5 mutation in a patient with Holt–Oram syndrome leading to a dramatically reduced biological function

BACKGROUND: The Holt–Oram syndrome (HOS) is an autosomal dominant disorder affecting 1/100.000 live births. It is defined by upper limb anomalies and congenital heart defects with variable severity. We describe a dramatic phenotype of a male, 15‐month‐old patient being investigated for strict diagno...

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Detalles Bibliográficos
Autores principales: Dreßen, Martina, Lahm, Harald, Lahm, Armin, Wolf, Klaudia, Doppler, Stefanie, Deutsch, Marcus‐André, Cleuziou, Julie, Pabst von Ohain, Jelena, Schön, Patric, Ewert, Peter, Malcic, Ivan, Lange, Rüdiger, Krane, Markus
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2016
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5023941/
https://www.ncbi.nlm.nih.gov/pubmed/27652283
http://dx.doi.org/10.1002/mgg3.234

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