A novel DNAH11 variant segregating in a sibship with heterotaxy and implications for genetic counseling.,Molecular Genetics & Genomic Medicine

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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.

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