Primary ciliary dyskinesia in Amish communities.
case_series · Level IV
Where this comes from
- Record sourced from PubMed, PMID 20350728.
- Also identified by DOI 10.1016/j.jpeds.2010.01.054 and PMC identifier 2875274.
- No licence information is recorded for this record.
- Because redistribution is not established, this page shows the abstract only. Follow the links below for the full text.
Abstract
Primary ciliary dyskinesia is an autosomal recessive multigenic disease that results in impaired mucociliary clearance. We have diagnosed 9 subjects with primary ciliary dyskinesia from geographically dispersed Amish communities, on the basis of clinical characteristics and ciliary ultrastructural defects. Despite consanguinity, affected individuals had evidence of genetic heterogeneity.
Medical subject headings
- Ciliary Motility Disorders