The first Korean case with Floating-Harbor syndrome with a novel SRCAP 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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Gorde:
Xehetasun bibliografikoak
Argitaratua izan da:Korean J Pediatr
Egile Nagusiak: Choi, Eun Mi, Lee, Dong Hyun, Kang, Seok Jin, Shim, Ye Jee, Kim, Heung Sik, Kim, Jun Sik, Jeong, Jong In, Ha, Jung-Sook, Jang, Ja-Hyun
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: Korean Pediatric Society 2018
Gaiak:
Case Report
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC6313083/
https://ncbi.nlm.nih.gov/pubmed/30304910
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3345/kjp.2018.06289
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