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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...
Autores principales: | 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 |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Yonsei University College of Medicine
2019
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6433568/ https://www.ncbi.nlm.nih.gov/pubmed/30900427 http://dx.doi.org/10.3349/ymj.2019.60.4.395 |
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