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

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...

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

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http://www.sciencedirect.com/science/article/pii/S111086301400086X

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