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Identification of a novel TBX5 mutation in a Chinese family with rare symptoms of Holt–Oram syndrome
Holt–Oram syndrome (HOS) is a rare autosomal dominant disorder characterized by skeletal abnormalities of the upper limbs and often cardiac malformations. We investigated a Chinese family with clinical features suggestive of HOS. Clinical examinations revealed that both the proband and his father ha...
| Autores principales: | , , , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Elsevier
2022
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9699963/ https://www.ncbi.nlm.nih.gov/pubmed/36444245 http://dx.doi.org/10.1016/j.heliyon.2022.e11774 |