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Article

Biallelic FGF4 Variants Linked to Thoracic Dystrophy and Respiratory Insufficiency.

Clinical genetics - 1 Oct 2025

Watts Laura M, Kinning Esther, Latner Donald R, Johnston Marla, Patrick-Esteve Jessica, Cooper Gregory M, Twigg Stephen R F, Pagnamenta Alistair T, Taylor Jenny C

Abstract excerpt

The thoracic dystrophies are inherited skeletal conditions where abnormal embryonic development of the thoracic skeleton results in a narrow chest, pulmonary hypoplasia, and respiratory insufficiency, which can be severe or lethal. The majority of thoracic dystrophies are due to biallelic alterations in genes needed for normal ciliary function. However, despite the identification of over 20 genes as causal for...

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Identifiers

PMID: 40259859
DOI: 10.1111/cge.14758
PMCID: PMC12353327

Genes

FGF4

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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