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Holt-Oram Syndrome With Multiple Cardiac Abnormalities

Holt-Oram syndrome (HOS) is a rare monogenic disorder characterized by upper limb abnormalities, congenital heart defects and/or conduction abnormalities. It is determined by mutations of TBX5 gene and is inherited in an autosomal dominant manner. Penetrance is complete, but variable expressivity is...

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Detalles Bibliográficos
Autores principales: Spiridon, Marilena Renata, Petris, Antoniu Octavian, Gorduza, Eusebiu Vlad, Petras, Anca Sabina, Popescu, Roxana, Caba, Lavinia
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elmer Press 2018
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6188042/
https://www.ncbi.nlm.nih.gov/pubmed/30344832
http://dx.doi.org/10.14740/cr767w