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Article

Additional EFNB1 mutations in craniofrontonasal syndrome.

American journal of medical genetics. Part A - 1 Aug 2008

Wallis Deeann, Lacbawan Felicitas, Jain Mahim, Der Kaloustian Vazken M, Steiner Carlos E, Moeschler John B, Losken H Wolfgang, Kaitila Ilkka I, Cantrell Stephen, Proud Virginia K, Carey John C, Day Donald W, Lev Dorit, Teebi Ahmad S, Robinson Luther K, Hoyme H Eugene, Al-Torki Nadia, Siegel-Bartelt Jacqueline, Mulliken John B, Robin Nathaniel H, Saavedra Dolores, Zackai Elaine H, Muenke Maximilian

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Topics

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Share to Chromosomes, Human, X
Share to Craniosynostoses
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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: 18627045
DOI: 10.1002/ajmg.a.32388
PMCID: PMC2774847

Genes

EFNB1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

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Additional EFNB1 mutations in craniofrontonasal syndrome.PMID 18627045Read ↗

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

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

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

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

Twenty-six novel EFNB1 mutations in familial and sporadic craniofrontonasal syndrome (CFNS).Semantic proximity Read ↗

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

A novel de novo mutation within EFNB1 gene in a young girl with craniofrontonasal syndrome.Semantic proximity Read ↗

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

Use of targeted next-generation sequencing for molecular diagnosis of craniosynostosis: Identification of a novel de novo mutation of EFNB1.Semantic proximity Read ↗

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

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