A case report of primary ciliary dyskinesia, laterality defects and developmental delay caused by the co-existence of a single gene and chromosome disorder

BACKGROUND: Primary ciliary dyskinesia (PCD) is a rare autosomal recessive disorder characterised by abnormal ciliary motion and impaired mucociliary clearance, leading to recurrent respiratory infections, sinusitis, otitis media and male infertility. Some patients also have laterality defects. We r...

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Bibliografiske detaljer
Udgivet i:BMC Med Genet
Main Authors: Casey, Jillian P., Goggin, Patricia, McDaid, Jennifer, White, Martin, Ennis, Sean, Betts, David R., Lucas, Jane S., Elnazir, Basil, Lynch, Sally Ann
Format: Artigo
Sprog:Inglês
Udgivet: BioMed Central 2015
Fag:
Case Report
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4630905/
https://ncbi.nlm.nih.gov/pubmed/26123568
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12881-015-0192-z
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