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Article

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

Human mutation - 1 Aug 2005

Wieland Ilse, Reardon William, Jakubiczka Sibylle, Franco Brunella, Kress Wolfram, Vincent-Delorme Catherine, Thierry Patrick, Edwards Matt, König Rainer, Rusu Cristina, Schweiger Susann, Thompson Elizabeth, Tinschert Sigrid, Stewart Fiona, Wieacker Peter

Abstract excerpt

Craniofrontonasal syndrome (CFNS) is an X-linked disorder characterized by a more severe manifestation in heterozygous females than in hemizygous males. Heterozygous females have craniofrontonasal dysplasia (CFND) and occasionally extracranial manifestations including midline defects and skeletal abnormalities, whereas hemizygous males show no or only mild features such as hypertelorism and rarely show cleft lip...

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Share to Chromosomes, Human, X
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 15959873
DOI: 10.1002/humu.20193

Genes

EFNB1

Variants

Provenance

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Related research

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Research trail→

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Twenty-six novel EFNB1 mutations in familial and sporadic craniofrontonasal syndrome (CFNS).PMID 15959873Read ↗

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

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

The impact of CFNS-causing EFNB1 mutations on ephrin-B1 function.Semantic proximity Read ↗

The origin of EFNB1 mutations in craniofrontonasal syndrome: frequent somatic mosaicism and explanation of the paucity of carrier males.Semantic proximity Read ↗

Cellular interference in craniofrontonasal syndrome: males mosaic for mutations in the X-linked EFNB1 gene are more severely affected than true hemizygotes.Semantic proximity Read ↗

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Additional EFNB1 mutations in craniofrontonasal syndrome.Semantic proximity Read ↗

Craniofrontonasal Syndrome: Atrial Septal Defect With a Novel EFNB1 Gene 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 ↗

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