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Article

Clinical and Neurodevelopmental Course in a Case of EFNB1-Related Craniofrontonasal Syndrome With Unrepaired Craniosynostosis.

Molecular genetics & genomic medicine - 1 May 2026

Assing Dominique L, Jolly Danielle E, Gluschitz Sarah, Nelson Beverly, Li Dong, Bhoj Elizabeth J, Nomakuchi Tomoki T, Sobering Andrew K

Abstract excerpt

INTRODUCTION: Craniofrontonasal syndrome displays an unusual X-linked dominant inheritance pattern due to pathogenic variants in EFNB1, which encodes a membrane-bound ligand for the ephrin receptor. Females exhibit a more severe phenotype than males and can have craniosynostosis, hypertelorism, craniofacial asymmetry, thoracic skeleton abnormalities, and an assortment of other features. Males typically only...

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Source

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Identifiers

PMID: 42026842
DOI: 10.1002/mgg3.70216
PMCID: PMC13106889

Genes

EFNB1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 25 Oct 2026.

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Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

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Clinical and Neurodevelopmental Course in a Case of EFNB1-Related Craniofrontonasal Syndrome With Unrepaired Craniosynostosis.PMID 42026842Read ↗

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