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 KAT6B gene mutation, which was identified using whole...

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Detalhes bibliográficos
Publicado no:Yonsei Med J
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
Formato: Artigo
Idioma:Inglês
Publicado em: Yonsei University College of Medicine 2019
Assuntos:
Case Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6433568/
https://ncbi.nlm.nih.gov/pubmed/30900427
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3349/ymj.2019.60.4.395
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