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Yonsei medical journal · Apr 2019
Case ReportsGenitopatellar Syndrome Secondary to De Novo KAT6B Mutation: The First Genetically Confirmed Case in South Korea.
- Byuh Ree Kim, Jeong Ho Han, Jeong Eun Shin, Min Soo Park, Kook In Park, Ran Namgung, Hyun Joo Lee, Jin Sung Lee, and Ho Sun Eun.
- Department of Pediatrics, Severance Children's Hospital, Yonsei University College of Medicine, Seoul, Korea.
- Yonsei Med. J. 2019 Apr 1; 60 (4): 395398395-398.
AbstractGenitopatellar syndrome (GPS) is a rare disorder characterized by patellar hypoplasia, flexion contractures of the lower limbs, psychomotor retardation and genital and renal anomalies. We report the case of a female infant diagnosed with GPS to a KAT6B gene mutation, which was identified using whole exome sequencing.© Copyright: Yonsei University College of Medicine 2019.
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