Primary ciliary dyskinesia: Kartagener syndrome in a family with a novel DNAH5 gene mutation and variable phenotypes

Background: Primary ciliary dyskinesia is a genetically heterogeneous autosomal recessive disorder with variable clinical manifestations, including chronic rhinosinusitis, otitis media, bronchitis, pneumonia, bronchiectasis, situs inversus totalis, reduced fertility in female patients and male infer...

Full description

Bibliographic Details

Published in:	Egyptian Journal of Medical Human Genetics
Main Authors:	Makia J. Marafie, Ibrahim S. Al Suliman, Abdullah M. Redha, Abdulrahman M. Alshati
Format:	Article
Language:	English
Published:	SpringerOpen 2015-01-01
Subjects:	Arab Consanguinity DNAH5 Kartagener syndrome Preimplantation genetic diagnosis Primary ciliary dyskinesia
Online Access:	http://www.sciencedirect.com/science/article/pii/S111086301400086X