Duplication of the EFNB1 Gene in Familial Hypertelorism: Imbalance in Ephrin-B1 Expression and Abnormal Phenotypes in Humans and Mice

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...

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Detalles Bibliográficos
Autores principales: Babbs, Christian, Stewart, Helen S, Williams, Louise J, Connell, Lyndsey, Goriely, Anne, Twigg, Stephen RF, Smith, Kim, Lester, Tracy, Wilkie, Andrew OM
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wiley Subscription Services, Inc., A Wiley Company 2011
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3170877/
https://www.ncbi.nlm.nih.gov/pubmed/21542058
http://dx.doi.org/10.1002/humu.21521

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