Use of targeted next‐generation sequencing for molecular diagnosis of craniosynostosis: Identification of a novel de novo mutation of EFNB 1

作者：Toshiyuki Yamamoto; Naru Igarashi; Keiko Shimojima; Noriko Sangu; Yuko Sakamoto; Kazuaki Shimoji; Shinichi Niijima

来源：Congenital Anomalies, 2016, 56(2): 91-93.

DOI：10.1111/cga.12123

• craniofrontonasal syndrome
• craniosynostosis
• ephrin‐ B 1
• massively parallel sequencing
• next‐generation sequencer
• mutation

Abstract(#br)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 carri...

• 出版日期2016
• 单位南方医科大学