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Article

Variability, asymmetry and sexual dimorphism in craniofacial anomalies in Loeys-Dietz syndrome 2: geometric morphometric analysis in mice.

Scientific reports - 10 Jan 2026

Devine Katelin R, Lynn Sarah, Jani Priyam, Keyvanfar Cyrus, Lamichhane Bikash, Hanner Ashleigh S, Dietrich Catharine, Chung Rachel S, Frischmeyer-Guerrerio Pamela A, Almpani Konstantinia, Duverger Olivier, Lee Janice S

Abstract excerpt

Loeys-Dietz syndrome is a rare connective tissue disorder characterized by life-threatening aortic aneurysm and distinctive craniofacial anomalies. It is caused by mutations along the transforming growth factor beta (TGF-β) signaling pathway (LDS1-6). We previously showed that craniofacial anomalies varied among LDS subtypes and that LDS2, caused by mutations in the TGFBR2 gene, exhibited the most severe and...

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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: 41519957
DOI: 10.1038/s41598-026-35325-8
PMCID: PMC12811269

Genes

TGFBR2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

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