Identification of causative mutation in a Korean family with Crouzon syndrome using whole exome sequencing.

Abstract excerpt

Craniosynostosis is a heterogeneous disorder that results in a common malformation which causes premature fusion of one or more cranial sutures. Whole-exome sequencing (WES) was recently developed as a powerful genetic strategy for identifying pathogenic mutations of heterogeneous disorders with various causative genes. A 24-year-old woman visited our department for evaluation of persistent hearing impairment and...

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