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Article

Duplication of the EFNB1 gene in familial hypertelorism: imbalance in ephrin-B1 expression and abnormal phenotypes in humans and mice.

Human mutation - 1 Aug 2011

Babbs Christian, Stewart Helen S, Williams Louise J, Connell Lyndsey, Goriely Anne, Twigg Stephen R F, Smith Kim, Lester Tracy, Wilkie Andrew O M

Abstract excerpt

Familial hypertelorism, characterized by widely spaced eyes, classically shows autosomal dominant inheritance (Teebi type), but some pedigrees are compatible with X-linkage. No mechanism has been described previously, but clinical similarity has been noted to craniofrontonasal syndrome (CFNS), which is caused by mutations in the X-linked EFNB1 gene. Here we report a family in which females in three generations...

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Topics

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Share to Chromosomes, Human, X
Share to Gene Duplication

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Gene Expression Regulation

Share to Hypertelorism

Share to Mice, Transgenic

Share to Sequence Alignment

Share to Transcription, Genetic

Share to X Chromosome Inactivation

Source

Open in PubMed Open full text

Identifiers

PMID: 21542058
DOI: 10.1002/humu.21521
PMCID: PMC3170877

Genes

EFNB1
PJA1
STARD8

Provenance

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

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