Autor: Shun Wang
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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 (DNAH1…