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...

Ausführliche Beschreibung

Gespeichert in:
Bibliographische Detailangaben
Veröffentlicht in:BMC Med Genet
Hauptverfasser: Casey, Jillian P., Goggin, Patricia, McDaid, Jennifer, White, Martin, Ennis, Sean, Betts, David R., Lucas, Jane S., Elnazir, Basil, Lynch, Sally Ann
Format: Artigo
Sprache:Inglês
Veröffentlicht: BioMed Central 2015
Schlagworte:
Case Report
Online Zugang: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
Tags: Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!

Ähnliche Einträge