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

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

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...

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Bibliographic Details
Main Authors: Eun Mi Choi, Dong Hyun Lee, Seok Jin Kang, Ye Jee Shim, Heung Sik Kim, Jun Sik Kim, Jong In Jeong, Jung-Sook Ha, Ja-Hyun Jang
Format: Article
Language:English
Published: Korean Pediatric Society 2018-12-01
Series:Korean Journal of Pediatrics
Subjects:
Floating-Harbor syndrome
Pelletier-Leisti syndrome
gene
Next generation sequencing
Online Access:http://kjp.or.kr/upload/pdf/kjp-2018-06289.pdf

Internet

http://kjp.or.kr/upload/pdf/kjp-2018-06289.pdf

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