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

• Egile Nagusiak: Eun Mi Choi (Egilea), Dong Hyun Lee (Egilea), Seok Jin Kang (Egilea), Ye Jee Shim (Egilea), Heung Sik Kim (Egilea), Jun Sik Kim (Egilea), Jong In Jeong (Egilea), Jung-Sook Ha (Egilea), Ja-Hyun Jang (Egilea)
• Formatua: Liburua
• Argitaratua: Korean Pediatric Society, 2018-12-01T00:00:00Z.
• Gaiak: article
• Sarrera elektronikoa: 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...