A novel de novo TBX5 mutation in a patient with Holt-Oram syndrome

Holt-Oram syndrome (HOS) is an autosomal dominant disorder characterized by congenital cardiac defects and congenital deformities of the upper limbs. Herein, we report the case of a 2-year-old patient presenting with clinical diagnostic criteria of HOS with interatrial and interventricular communica...

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Detalles Bibliográficos
Autores principales: Ríos-Serna, Lady J, Díaz-Ordoñez, Lorena, Candelo, Estephania, Pachajoa, Harry
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Dove Medical Press 2018
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6260184/
https://www.ncbi.nlm.nih.gov/pubmed/30538526
http://dx.doi.org/10.2147/TACG.S183418

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6260184/
https://www.ncbi.nlm.nih.gov/pubmed/30538526
http://dx.doi.org/10.2147/TACG.S183418

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