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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Detalhes bibliográficos
Publicado no: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
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2015
Assuntos:
Case Report
Acesso em linha: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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