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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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Detalles Bibliográficos
Autores principales: Xia, Hong, Huang, Xiangjun, Deng, Sheng, Xu, Hongbo, Yang, Yan, Liu, Xin, Yuan, Lamei, Deng, Hao
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2021
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