Ontology highlight
ABSTRACT:
SUBMITTER: Twigg SR
PROVIDER: S-EPMC423250 | biostudies-literature | 2004 Jun
REPOSITORIES: biostudies-literature
Twigg Stephen R F SR Kan Rui R Babbs Christian C Bochukova Elena G EG Robertson Stephen P SP Wall Steven A SA Morriss-Kay Gillian M GM Wilkie Andrew O M AO
Proceedings of the National Academy of Sciences of the United States of America 20040527 23
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 loss-of-function mutations in EFNB1, which encodes a member of the ephrin family of transmembrane l ...[more]