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Article

A novel genetic variant in DNAI2 detected by custom gene panel in a newborn with Primary Ciliary Dyskinesia: case report.

BMC medical genetics - 10 Nov 2020

Rocca Maria Santa, Piatti Gioia, Michelucci Angela, Guazzo Raffaella, Bertini Veronica, Vinanzi Cinzia, Caligo Maria Adelaide, Valetto Angelo, Foresta Carlo

Abstract excerpt

BACKGROUND: Primary ciliary dyskinesia (PCD) is a highly heterogeneous genetic disorder caused by defects in motile cilia. The hallmark features of PCD are the chronic infections of the respiratory tract, moreover, clinical manifestations include also laterality defects and risk of male infertility. Clinical phenotypes of PCD are the result of mutations in genes encoding components of axonema or factors involved...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 33167880
DOI: 10.1186/s12881-020-01160-5
PMCID: PMC7654168

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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