EFNB1 mutation at the ephrin ligand‐receptor dimerization interface in a patient with craniofrontonasal syndrome

ABSTRACT  Craniofrontonasal syndrome (CFNS) is characterized by craniosynostosis, hypertelorism, a broad nasal tip and occasionally cleft lip and palate, and is caused by a mutation in the ephrin‐B1 gene (EFNB1). The study of naturally occurring human EFNB1 mutations offers a unique opportunity to b...

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