Dataset Information

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

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.

SUBMITTER: Kim BR

PROVIDER: S-EPMC6433568 | biostudies-literature | 2019 Apr

REPOSITORIES: biostudies-literature

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

Kim Byuh Ree BR Han Jeong Ho JH Shin Jeong Eun JE Park Min Soo MS Park Kook In KI Namgung Ran R Lee Hyun Joo HJ Lee Jin Sung JS Eun Ho Sun HS

Yonsei medical journal 20190401 4

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. ...[more]

PMID: 30900427

Dataset Information

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

Publications

Genitopatellar Syndrome Secondary to <i>De Novo</i> <i>KAT6B</i> Mutation: The First Genetically Confirmed Case in South Korea.

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