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Holt-Oram Syndrome: An Incidental Diagnosis

Holt-Oram syndrome is a rare autosomal dominant disorder which occurs because of mutations in the TBX5 genes. Most notable manifestations include musculoskeletal deformities, predominantly affecting the upper limbs, and congenital heart defects. Presentation could be multifaceted leading to delay in...

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Detalles Bibliográficos
Autores principales: Gupta, Mehak, Dosu, Ayodeji, Makan, Jayesh
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cureus 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9185177/
https://www.ncbi.nlm.nih.gov/pubmed/35698674
http://dx.doi.org/10.7759/cureus.24899