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Genitopatellar Syndrome Secondary to De Novo KAT6B Mutation: The First Genetically Confirmed Case in South Korea
Yonsei Medical Journal ; : 395-398, 2019.
Article in English | WPRIM | ID: wpr-742542
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.
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Full text: Available Index: WPRIM (Western Pacific) Main subject: Contracture / Lower Extremity / Exome / Korea Limits: Female / Humans / Infant Country/Region as subject: Asia Language: English Journal: Yonsei Medical Journal Year: 2019 Type: Article

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Full text: Available Index: WPRIM (Western Pacific) Main subject: Contracture / Lower Extremity / Exome / Korea Limits: Female / Humans / Infant Country/Region as subject: Asia Language: English Journal: Yonsei Medical Journal Year: 2019 Type: Article