Mutations of ephrin-B1 (EFNB1), a marker of tissue boundary formation, cause craniofrontonasal syndrome

Craniofrontonasal syndrome (CFNS) is an X-linked developmental disorder that shows paradoxically greater severity in heterozygous females than in hemizygous males. Females have frontonasal dysplasia and coronal craniosynostosis (fusion of the coronal sutures); in males, hypertelorism is the only typ...

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Detalhes bibliográficos
Main Authors: Twigg, Stephen R. F., Kan, Rui, Babbs, Christian, Bochukova, Elena G., Robertson, Stephen P., Wall, Steven A., Morriss-Kay, Gillian M., Wilkie, Andrew O. M.
Formato: Artigo
Idioma:Inglês
Publicado em: National Academy of Sciences 2004
Assuntos:
Biological Sciences
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC423250/
https://ncbi.nlm.nih.gov/pubmed/15166289
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1073/pnas.0402819101
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