A novel DNAH11 variant segregating in a sibship with heterotaxy and implications for genetic counseling
Author:
Affiliation:
1. Faculty of Medicine University of Toronto Toronto ON Canada
2. Laboratory Medicine and Genetics Trillium Health Partners Mississauga ON Canada
3. Division of Cardiology Hospital for Sick Children Toronto ON Canada
Publisher
Wiley
Subject
Genetics(clinical),Genetics,Molecular Biology
Link
https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.1358
Reference26 articles.
1. Loss-of-function mutations in the EGF-CFC gene CFC1 are associated with human left-right laterality defects
2. Mutations in the DNAH11 (axonemal heavy chain dynein type 11) gene cause one form of situs inversus totalis and most likely primary ciliary dyskinesia
3. Survival into adulthood of patients with atrial isomerism undergoing cardiac surgery
4. Diagnosis of Primary Ciliary Dyskinesia by a Targeted Next-Generation Sequencing Panel
5. Prenatal diagnosis of left isomerism with normal heart: A case report;De Paola N.;Journal of Prenatal Medicine,2009
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