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Article

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

The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association - 1 Jan 2012

Apostolopoulou Despina, Stratoudakis Alexander, Hatzaki Angeliki, Kaxira Olga S, Panagopoulos Kanaris P, Kollia Panagoula, Aleporou Vassiliki

Abstract excerpt

Craniofrontonasal syndrome is mainly characterized by frontonasal dysplasia, telorbitism, a broad nasal root, and frequently a bifid nose and coronal craniosynostosis. Craniofrontonasal syndrome is an X-linked disorder with an unusual pattern of inheritance because heterozygous females are more severely affected than hemizygous males. The craniofrontonasal syndrome-causing gene is EFNB1, localized in the border...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 21385071
DOI: 10.1597/10-247

Genes

EFNB1

Provenance

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A novel de novo mutation within EFNB1 gene in a young girl with craniofrontonasal syndrome.PMID 21385071Read ↗

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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 ↗

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