%0 Journal Article
%T Genitopatellar Syndrome Secondary to De Novo
KAT6B Mutation: The First Genetically Confirmed Case in South Korea
%A Byuh Ree Kim
%A Ho Sun Eun
%A Hyun-Joo Lee
%A Jeong Eun Shin
%A Jeong Ho Han
%A Jin-Sung Lee
%A Kook In Park
%A Min Soo Park
%A Ran Namgung
%J Archive of "Yonsei Medical Journal".
%D 2019
%R 10.3349/ymj.2019.60.4.395
%X 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
%K Genitopatellar syndrome
%K KAT6B gene
%U https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6433568/