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Genitopatellar Syndrome Secondary to De Novo KAT6B Mutation: The First Genetically Confirmed Case in South Korea

Yonsei Medical Journal 2019년 60권 4호 p.395 ~ 398
 ( Kim Byuh-Ree ) - Yonsei University College of Medicine Severance Children’s Hospital Department of Pediatrics

 ( Han Jeong-Ho ) - Yonsei University College of Medicine Severance Children’s Hospital Department of Pediatrics
 ( Shin Jeong-Eun ) - Yonsei University College of Medicine Severance Children’s Hospital Department of Pediatrics
 ( Park Min-Soo ) - Yonsei University College of Medicine Severance Children’s Hospital Department of Pediatrics
 ( Park Kook-In ) - Yonsei University College of Medicine Severance Children’s Hospital Department of Pediatrics
 ( Namgung Ran ) - Yonsei University College of Medicine Severance Children’s Hospital Department of Pediatrics
 ( Lee Hyun-Joo ) - Yonsei University College of Medicine Severance Children’s Hospital Department of Pediatrics
 ( Lee Jin-Sung ) - Yonsei University College of Medicine Severance Children’s Hospital Department of Pediatrics
 ( Eun Ho-Sun ) - Yonsei University College of Medicine Severance Children’s Hospital Department of Pediatrics

Abstract

Genitopatellar 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.

키워드

Genitopatellar syndrome; KAT6B gene
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