Expanding the phenotype of craniofrontonasal syndrome: two unrelated boys with EFNB1 mutations and congenital diaphragmatic hernia.

Craniofrontonasal syndrome (CFNS, MIM 304110) is an X-linked craniofacial disorder that shows paradoxically greater severity in heterozygous females than in hemizygous males. Mutations have been identified in the EFNB1 gene that encodes a member of the ephrin-B family of transmembrane ligands for Ep...

詳細記述

書誌詳細
主要な著者: Vasudevan, P, Twigg, SR, Mulliken, J, Cook, J, Quarrell, O, Wilkie, A
フォーマット: Journal article
言語:English
出版事項: 2006