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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Publicado en:BMC Med Genet
Autores principales: Casey, Jillian P., Goggin, Patricia, McDaid, Jennifer, White, Martin, Ennis, Sean, Betts, David R., Lucas, Jane S., Elnazir, Basil, Lynch, Sally Ann
Formato: Artigo
Lenguaje:Inglês
Publicado: BioMed Central 2015
Materias:
Case Report
Acceso en línea: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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