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Article

First Korean Patients with Craniofrontonasal Syndrome Confirmed by EFNB1 Analysis.

Annals of clinical and laboratory science - 1 Sept 2016

Yoo Hani, Ko Jung Min, Lim Byung Chan, Cheong Hae Il

Abstract excerpt

Craniofrontonasal syndrome (CFNS) is a very rare genetic disorder with variable clinical phenotypes, including brachycephaly, hypertelorism, and a bifid nasal tip. Moreover, longitudinal splittings of the nails and skeletal abnormalities may accompany this condition. CFNS is inherited in an X-linked dominant manner; however, affected heterozygous females exhibit additional and more severe manifestations compared...

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Identifiers

PMID: 27650623

Genes

EFNB1

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

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First Korean Patients with Craniofrontonasal Syndrome Confirmed by EFNB1 Analysis.PMID 27650623Read ↗

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

A Family with Craniofrontonasal Syndrome: The First Report of Familial Cases of Craniofrontonasal Syndrome with Bilateral Cleft Lip and Palate.Semantic proximity Read ↗

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[Craniofrontonasal syndrome: genetic aspects and description of a clinical case].Semantic proximity Read ↗

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

Additional EFNB1 mutations in craniofrontonasal syndrome.Semantic proximity Read ↗

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