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DNAH11 compound heterozygous variants cause heterotaxy and congenital heart disease
Heterotaxy (HTX), a condition characterized by internal organs not being arranged as expected relative to each other and to the left-right axis, is often accompanied with congenital heart disease (CHD). The purpose was to detect the pathogenic variants in a Chinese family with HTX and CHD. A non-con...
Autores principales: | Xia, Hong, Huang, Xiangjun, Deng, Sheng, Xu, Hongbo, Yang, Yan, Liu, Xin, Yuan, Lamei, Deng, Hao |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Public Library of Science
2021
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8208527/ https://www.ncbi.nlm.nih.gov/pubmed/34133440 http://dx.doi.org/10.1371/journal.pone.0252786 |
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