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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...

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Dades bibliogràfiques
Publicat a:PLoS One
Autors principals: Xia, Hong, Huang, Xiangjun, Deng, Sheng, Xu, Hongbo, Yang, Yan, Liu, Xin, Yuan, Lamei, Deng, Hao
Format: Artigo
Idioma:Inglês
Publicat: Public Library of Science 2021
Matèries:
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC8208527/
https://ncbi.nlm.nih.gov/pubmed/34133440
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0252786
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