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...
Asıl Yazarlar: | Twigg, SR, Kan, R, Babbs, C, Bochukova, E, Robertson, S, Wall, SA, Morriss-Kay, G, Wilkie, A |
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Materyal Türü: | Journal article |
Dil: | English |
Baskı/Yayın Bilgisi: |
2004
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