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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Autors principals: 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
Idioma:Inglês
Publicat: 2014
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Article
Accés en línia: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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