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Article

A novel non-recurrent CNV deletion involving TBX4 and leaving TBX2 intact causes congenital alveolar dysplasia.

Clinical genetics - 1 Feb 2024

Bzdęga Katarzyna, Biela Mateusz, Deutsch Gail H, Kitzmiller Joseph A, Rydzanicz Małgorzata, Płoski Rafał, Whitsett Jeffrey A, Śmigiel Robert, Karolak Justyna A

Abstract excerpt

Congenital alveolar dysplasia (CAD) belongs to rare lethal lung developmental disorders (LLDDs) in neonates, manifesting with acute respiratory failure and pulmonary arterial hypertension refractory to treatment. The majority of CAD cases have been associated with copy-number variant (CNV) deletions at 17q23.1q23.2 or 5p12. Most CNV deletions at 17q23.1q23.2 were recurrent and encompassed two closely located...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 37821225
DOI: 10.1111/cge.14428
PMCID: PMC10842446

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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A novel non-recurrent CNV deletion involving TBX4 and leaving TBX2 intact causes congenital alveolar dysplasia.PMID 37821225Read ↗

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