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Article

Investigating genotype-phenotype correlations in primary ciliary dyskinesia: a sibling cohort study.

Pediatric pulmonology - 1 Dec 2024

Hazan Guy, Aviram Micha, Levanon Eran, Golan-Tripto Inbal, Goldbart Aviv, Gatt Dvir

Abstract excerpt

INTRODUCTION: Primary Ciliary Dyskinesia (PCD) is a complex mostly autosomal recessive disorder characterized by dysfunction of primary motor cilia, leading to multisystemic manifestations, primarily affecting the rhino-sinopulmonary system. Despite advancements in understanding its pathogenesis, genotype-phenotype correlations are not fully elucidated. Utilizing sibling cohorts offers a promising approach to...

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Identifiers

PMID: 39282880
DOI: 10.1002/ppul.27263

Genes

DNAAF3
DNAH11
DNAL1
ZMYND10

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