A novel DNAH11 variant segregating in a sibship with heterotaxy and implications for genetic counseling

BACKGROUND: 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. METHOD...

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Detalles Bibliográficos
Autores principales: Namavarian, Amirpouyan, Eid, Anas, Goh, Elaine Suk‐Ying, Thakur, Varsha
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2020
Materias:
Clinical Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7507105/
https://www.ncbi.nlm.nih.gov/pubmed/32633470
http://dx.doi.org/10.1002/mgg3.1358

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