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A novel DNAH11 variant segregating in a sibship with heterotaxy and implications for genetic counseling.
Molecular Genetics & Genomic Medicine ( IF 1.5 ) Pub Date : 2020-07-07 , DOI: 10.1002/mgg3.1358
Amirpouyan Namavarian 1 , Anas Eid 1 , Elaine Suk-Ying Goh 2 , Varsha Thakur 3
Affiliation  

Isomerism or heterotaxy syndrome is the loss of normal asymmetry of the internal thoraco‐abdominal organs in the left‐right axis and is associated with cardiovascular malformations. Mutations within DNAH11 can be associated with primary ciliary dyskinesia and heterotaxy syndromes.

中文翻译:

一个新的DNAH11变异体在同胞中分离,具有异源性和遗传咨询意义。

异构或异位症候群是指左,右轴的胸腹内部器官的正常不对称性丧失,并与心血管畸形有关。DNAH11中的突变可能与原发性睫状运动障碍和异型症候群相关。
更新日期:2020-09-14
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