Cri du Chat Syndrome and Primary Ciliary Dyskinesia: A Common Genetic Cause on Chromosome 5p

Cri du chat syndrome (CdCS) and primary ciliary dyskinesia (PCD) are rare diseases that present with frequent respiratory symptoms. PCD can be caused by hemizygous DNAH5 mutation in combination with a 5p segmental deletion attributable to CdCS on the opposite chromosome. Chronic oto-sino-pulmonary s...

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Main Authors: Shapiro, Adam J., Weck, Karen E., Chao, Kay C., Rosenfeld, Margaret, Nygren, Anders O. H., Knowles, Michael R., Leigh, Margaret W., Zariwala, Maimoona A.
Format: Artigo
Sprog:Inglês
Udgivet: 2014
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Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4177261/
https://ncbi.nlm.nih.gov/pubmed/25066065
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.jpeds.2014.06.048
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