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

R.F. Twigg, Stephen; Kan, Rui; Babbs, Christian; G. Bochukova, Elena; P. Robertson, Stephen; A. Wall, Steven; Morriss‐Kay, Gillian; O.M. Wilkie, Andrew

doi:10.1073/pnas.0402819101

Public

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

Published in Proceedings of the National Academy of Sciences • May 27, 2004

Authors:

Stephen R.F. Twigg

Rui Kan

Christian Babbs

Abstract

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...

Subject

Erythropoietin-producing hepatocellular (Eph) receptor

Biology

Coronal suture

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