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