Case report: novel DNAH11 compound heterozygous variants including an exon 30–54 duplication in a child with a highly suggestive primary ciliary dyskinesia phenotype

Primary ciliary dyskinesia (PCD) is a rare disorder characterized by dysfunction of motile cilia and chronic progressive respiratory disease, mianly inherited in an autosomal recessive manner. Biallelic variants in dynein axonemal heavy chain 11 (DNAH11) have been reported in association with PCD an...

Volledige beschrijving

Bibliografische gegevens

Hoofdauteurs:	Shun Wang, Yuyi Zhang, Min Wu, Yanyu He, Sainan Chen, Xueyun Xu, Meng Lv, Jiapeng Ji, Yuqing Wang
Formaat:	Artigo
Taal:	Inglês
Gepubliceerd in:	Frontiers Media S.A. 2026-06-01
Reeks:	Frontiers in Genetics
Onderwerpen:	DNAH11 gene exome sequencing nasal nitric oxide primary ciliary dyskinesia qPCR
Online toegang:	https://www.frontiersin.org/articles/10.3389/fgene.2026.1857794/full
Tags:	Voeg label toe Geen labels, Wees de eerste die dit record labelt!