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...

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Detalles Bibliográficos
Autores principales: Li, Xia, Shi, Weizhe, Ding, Xuejiao, Li, Jingchun, Li, Yiqiang, Wu, Jianping, Yuan, Zhe, Nong, Tianying, Xu, Hongwen, Zhu, Mingwei
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2022
Materias:
Case Report
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

Internet

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

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