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

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 gene mutation, which was identified using whole exome...

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Published inYonsei medical journal Vol. 60; no. 4; pp. 395 - 398
Main Authors Kim, Byuh Ree, Han, Jeong Ho, Shin, Jeong Eun, Park, Min Soo, Park, Kook In, Namgung, Ran, Lee, Hyun-Joo, Lee, Jin-Sung, Eun, Ho Sun
Format Journal Article
LanguageEnglish
Published Korea (South) Yonsei University College of Medicine 01.04.2019
연세대학교의과대학
Subjects
Case Report
의학일반
Genitopatellar syndrome
KAT6B gene
Online AccessGet full text
ISSN0513-5796
1976-2437
1976-2437
DOI10.3349/ymj.2019.60.4.395

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Summary: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 gene mutation, which was identified using whole exome sequencing.
Bibliography:ObjectType-Case Study-2
SourceType-Scholarly Journals-1
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https://www.eymj.org/DOIx.php?id=10.3349/ymj.2019.60.4.395
ISSN:0513-5796
1976-2437
1976-2437
DOI:10.3349/ymj.2019.60.4.395