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Article

A novel EFNB1 mutation in a patient with craniofrontonasal syndrome and right hallux duplication.

Gene - 25 Sept 2013

Seven Mehmet, Gezdirici Alper, Ulucan Hakan, Karatas Omer Faruk, Yosunkaya Elif, Yuksel Adnan, Ozen Mustafa

Abstract excerpt

Craniofrontonasal syndrome (CFNS, MIM #304110) is a rare X-linked dominant developmental disorder that shows paradoxically greater severity in affected females than in affected males. Our female patient with frontonasal dysplasia, craniosynostosis and additional malformations was consistent with CFNS. EFNB1, which encodes a member of the ephrin family of transmembrane ligands for Eph receptor tyrosine kinases, is...

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Identifiers

PMID: 23845783
DOI: 10.1016/j.gene.2013.06.038

Genes

EFNB1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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