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Article

Dual-allele heterozygous mutation of DNAH5 gene in a boy with primary ciliary dyskinesia: A case report.

Medicine - 29 Dec 2023

Shi Yu, Lei Qihong, Han Qing

Abstract excerpt

RATIONALE: To analyze clinical and imaging features, ciliary structure and family gene mutation loci of a primary ciliary dyskinesia (PCD) boy with a dual-allele heterozygous mutation of DNAH5. PATIENT CONCERNS: Clinical data of the proband and relatives. Electronic bronchoscopy, transmission electron microscope (TEM) of the cilia and next-generation sequencing (NGS) were performed. PCD-related DNAH5 exon...

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PMID: 38206729
DOI: 10.1097/MD.0000000000036271
PMCID: PMC10754609

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