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Article

Investigating the interplay between prematurity and genetic variation in the context of rare developmental disorders.

Genome medicine - 30 Oct 2025

Wootton Olivia, Campbell Patrick, Richardson Sarah, Lindsay Sarah J, Huang Qin Qin, Delage Erwan, Amanat Sana, Wong Hilary S, Firth Helen V, Hurles Matthew E, Simpson Michael A, Radford Elizabeth J, Martin Hilary C

Abstract excerpt

BACKGROUND: Rare damaging genetic variation accounts for a substantial proportion of the risk of rare developmental disorders (DDs), but common genetic variants as well as environmental factors, including prematurity, also contribute. Little is known about the interplay between prematurity and genetic variation in influencing phenotypic outcomes in DDs, nor about how genetic factors may contribute to risk of...

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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: 41168876
DOI: 10.1186/s13073-025-01560-3
PMCID: PMC12574137

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