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| The first Korean case with Floating-Harbor syndrome with a novel SRCAP mutation diagnosed by targeted exome sequencing |
| 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 |
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Clin Exp Pediatr. 2018;61(12):403-406. Published online September 16, 2018 DOI: https://doi.org/10.3345/kjp.2018.06289 |
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The first Korean case with Floating-Harbor syndrome with a novel SRCAP mutation diagnosed by targeted exome sequencing Korean Journal of Pediatrics. 2018;61(12):403-406  Targeted exome sequencing identified a novel USH2A mutation in a Chinese Usher syndrome family: a case report . 2020; Targeted exome sequencing identified a novel USH2A mutation in a Chinese Usher syndrome family: a case report . 2020; Targeted Exome Sequencing Identified a Novel USH2A Mutation in a Chinese Usher Syndrome Family . 2020; Mosaic variegated aneuploidy syndrome caused by a CEP57 mutation diagnosed by whole exome sequencing Clinical Case Reports. 2018;6(8):1531-1534 Targeted exome sequencing identified a novel USH2A mutation in a Chinese Usher syndrome family: a case report . 2020; Targeted exome sequencing identified a novel USH2A mutation in a Chinese Usher syndrome family: a case report . 2020; Targeted exome sequencing identified a novel USH2A mutation in a Chinese Usher syndrome family: a case report . 2020; A de novo SRCAP mutation associated with Floating-Harbor syndrome Current Opinion in Biotechnology. 2013;24:S100 Floating-Harbor syndrome: Presentation of the first Romanian patient with a SRCAP mutation and review of the literature Balkan Journal of Medical Genetics. 2018;21(1):83-86 |
