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...
Main Authors: | , , , |
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Format: | Article |
Language: | English |
Published: |
SpringerOpen
2015-01-01
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Series: | Egyptian Journal of Medical Human Genetics |
Subjects: | |
Online Access: | http://www.sciencedirect.com/science/article/pii/S111086301400086X |