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Article

Expanding the phenotype of craniofrontonasal syndrome: two unrelated boys with EFNB1 mutations and congenital diaphragmatic hernia.

European journal of human genetics : EJHG - 1 Jul 2006

Vasudevan Pradeep C, Twigg Stephen R F, Mulliken John B, Cook Jackie A, Quarrell Oliver W J, Wilkie Andrew O M

Abstract excerpt

Craniofrontonasal syndrome (CFNS, MIM 304110) is an X-linked craniofacial disorder that shows paradoxically greater severity in heterozygous females than in hemizygous males. Mutations have been identified in the EFNB1 gene that encodes a member of the ephrin-B family of transmembrane ligands for Eph receptor tyrosine kinases. Here, we describe two unrelated families, in both of which a mother and her son have...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 16639408
DOI: 10.1038/sj.ejhg.5201633

Genes

EFNB1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Expanding the phenotype of craniofrontonasal syndrome: two unrelated boys with EFNB1 mutations and congenital diaphragmatic hernia.PMID 16639408Read ↗

A novel EFNB1 mutation (c.712delG) in a family with craniofrontonasal syndrome and diaphragmatic hernia.Semantic proximity Read ↗

Clinical and molecular characterization of craniofrontonasal syndrome: new symptoms and novel pathogenic variants in the EFNB1 gene.Semantic proximity Read ↗

Mutations of the ephrin-B1 gene cause craniofrontonasal syndrome.Semantic proximity Read ↗

Phenotypes of craniofrontonasal syndrome in patients with a pathogenic mutation in EFNB1.Semantic proximity Read ↗

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

Craniofrontonasal Syndrome: Atrial Septal Defect With a Novel EFNB1 Gene Mutation.Semantic proximity Read ↗

A novel EFNB1 mutation in a patient with craniofrontonasal syndrome and right hallux duplication.Semantic proximity Read ↗

Extracranial midline defects in a patient with craniofrontonasal syndrome with a novel EFNB1 mutation.Semantic proximity Read ↗

The First Description of Monozygotic Twin Females Discordant for the Craniofrontonasal Syndrome Phenotype and the Report of Four Novel Pathogenic Variants in the EFNB1 GeneSemantic proximity Read ↗

Diverse clinical and genetic aspects of craniofrontonasal syndrome.Semantic proximity Read ↗

Clinical and genetic aspects of craniofrontonasal syndrome: towards resolving a genetic paradox.Semantic proximity Read ↗

First Korean Patients with Craniofrontonasal Syndrome Confirmed by EFNB1 Analysis.Semantic proximity Read ↗

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