Article
Use of targeted next-generation sequencing for molecular diagnosis of craniosynostosis: Identification of a novel de novo mutation of EFNB1.
Congenital anomalies - 1 Mar 2016
Yamamoto Toshiyuki, Igarashi Naru, Shimojima Keiko, Sangu Noriko, Sakamoto Yuko, Shimoji Kazuaki, Niijima Shinichi
Abstract excerpt
Craniofrontonasal syndrome (CFNS; MIM#304110) is characterized by asymmetric facial features with hypertelorism and a broad bifid nose due to synostosis of the coronal suture. CFNS shows a unique X-linked inheritance pattern (most affected patients are female and obligate male carriers exhibit a mild manifestation or no typical features at all) associated with the ephrin-B1 gene (EFNB1) located in the Xq13.1...
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