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

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...

書誌詳細
主要な著者:	Twigg, SR, Kan, R, Babbs, C, Bochukova, E, Robertson, S, Wall, SA, Morriss-Kay, G, Wilkie, A
フォーマット:	Journal article
言語:	English
出版事項:	2004

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