Article
Mutations of ephrin-B1 (EFNB1), a marker of tissue boundary formation, cause craniofrontonasal syndrome.
Proceedings of the National Academy of Sciences of the United States of America - 8 Jun 2004
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
Abstract excerpt
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 typical manifestation. Here, we show that the classical female CFNS phenotype is caused by heterozygous...
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