Craniofrontonasal syndrome

Xq12, Xp22 Google OMIM Orphanet PubMed Wikipedia

*Gene map locus Xq12, Xp22

CFNS

Craniofrontonasal dysostosis

Craniofrontonasal dysplasia

[Clinical features: females with frontonasal dysplasia, craniofacial asymmetry, craniosynostosis, bifid nasal tip, grooved nails, wiry hair, thoracic abnormalities; hypertelorism in males]

[Inheritance: X-linked dominant]


Mutations of the Ephrin-B1 Gene Cause Craniofrontonasal Syndrome	The Origin of EFNB1 Mutations in Craniofrontonasal Syndrome: Frequent Somatic Mosaicism and Explanation of the Paucity of Carrier Males	Expanding the phenotype of craniofrontonasal syndrome: two unrelated boys with EFNB1 mutations and congenital diaphragmatic hernia
American Journal of Human Genetics	American Journal of Human Genetics	European Journal of Human Genetics


Expanding the phenotype of craniofrontonasal syndrome: two unrelated boys with EFNB1 mutations and congenital diaphragmatic hernia	A novel phenotypic pattern in X-linked inheritance: craniofrontonasal syndrome maps to Xp22	Mutations of ephrin-B1 (EFNB1), a marker of tissue boundary formation, cause craniofrontonasal syndrome
European Journal of Human Genetics	Human Molecular Genetics	Proceedings of the National Academy of Sciences of the United States of America

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Edited by Aldo Campana, March 14, 2010