The first Korean case with Floating-Harbor syndrome with a novel mutation diagnosed by targeted exome sequencing

• Main Authors: Eun Mi Choi (Author), Dong Hyun Lee (Author), Seok Jin Kang (Author), Ye Jee Shim (Author), Heung Sik Kim (Author), Jun Sik Kim (Author), Jong In Jeong (Author), Jung-Sook Ha (Author), Ja-Hyun Jang (Author)
• Format: Book
• Published: Korean Pediatric Society, 2018-12-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Floating-Harbor syndrome is a rare autosomal dominant genetic disorder associated with SRCAP mutation. To date, approximately 50 cases of Floating-Harbor syndrome have been reported, but none have been reported in Korea yet. Floating-Harbor syndrome is characterized by delayed bony maturation, uniqu...