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Holt–Oram Syndrome: Hands are the Clue to the Diagnosis
Holt–Oram syndrome or heart–hand syndrome consists of phenotypic and genotypic abnormalities. It is characterized by abnormalities of upper limbs and congenital cardiac defects. It is an autosomal dominant disorder due to a mutation in TBX5 gene located on chromosome 12, but sporadic cases have also...
| Autores principales: | , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Wolters Kluwer - Medknow
2019
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6822328/ https://www.ncbi.nlm.nih.gov/pubmed/31681553 http://dx.doi.org/10.4103/ijabmr.IJABMR_298_18 |