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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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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Yonsei University College of Medicine 2019
Materias:
Case Report
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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author 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
author_facet 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
author_sort Kim, Byuh Ree
collection PubMed
description 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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spelling pubmed-64335682019-04-02 Genitopatellar Syndrome Secondary to De Novo KAT6B Mutation: The First Genetically Confirmed Case in South Korea 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 Yonsei Med J Case Report 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. Yonsei University College of Medicine 2019-04-01 2019-03-19 /pmc/articles/PMC6433568/ /pubmed/30900427 http://dx.doi.org/10.3349/ymj.2019.60.4.395 Text en © Copyright: Yonsei University College of Medicine 2019 https://creativecommons.org/licenses/by-nc/4.0/ This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (https://creativecommons.org/licenses/by-nc/4.0/) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
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
Genitopatellar Syndrome Secondary to De Novo KAT6B Mutation: The First Genetically Confirmed Case in South Korea
title Genitopatellar Syndrome Secondary to De Novo KAT6B Mutation: The First Genetically Confirmed Case in South Korea
title_full Genitopatellar Syndrome Secondary to De Novo KAT6B Mutation: The First Genetically Confirmed Case in South Korea
title_fullStr Genitopatellar Syndrome Secondary to De Novo KAT6B Mutation: The First Genetically Confirmed Case in South Korea
title_full_unstemmed Genitopatellar Syndrome Secondary to De Novo KAT6B Mutation: The First Genetically Confirmed Case in South Korea
title_short Genitopatellar Syndrome Secondary to De Novo KAT6B Mutation: The First Genetically Confirmed Case in South Korea
title_sort genitopatellar syndrome secondary to de novo kat6b mutation: the first genetically confirmed case in south korea
topic Case Report
url 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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