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Genitopatellar Syndrome Secondary to De Novo KAT6B Mutation: The First Genetically Confirmed Case in South Korea

Authors
 Byuh Ree Kim  ;  Jeong Ho Han  ;  Jeong Eun Shin  ;  Min Soo Park  ;  Kook In Park  ;  Ran Namgung  ;  Hyun-Joo Lee  ;  Jin-Sung Lee  ;  Ho Sun Eun 
Citation
 YONSEI MEDICAL JOURNAL, Vol.60(4) : 395-398, 2019 
Journal Title
 YONSEI MEDICAL JOURNAL 
ISSN
 0513-5796 
Issue Date
2019
MeSH
Craniofacial Abnormalities/diagnosis ; Craniofacial Abnormalities/genetics* ; Female ; Histone Acetyltransferases/genetics* ; Humans ; Infant ; Intellectual Disability/diagnosis ; Intellectual Disability/genetics* ; Kidney/abnormalities* ; Musculoskeletal Abnormalities/genetics* ; Mutation/genetics* ; Patella/abnormalities* ; Psychomotor Disorders/diagnosis ; Psychomotor Disorders/genetics* ; Republic of Korea ; Scrotum/abnormalities* ; Urogenital Abnormalities/diagnosis ; Urogenital Abnormalities/genetics* ; Whole Exome Sequencing/methods*
Keywords
Genitopatellar syndrome ; KAT6B gene
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.
Files in This Item:
T201901416.pdf Download
DOI
10.3349/ymj.2019.60.4.395
Appears in Collections:
1. College of Medicine (의과대학) > Dept. of Pediatrics (소아청소년과학교실) > 1. Journal Papers
Yonsei Authors
Namgung, Ran(남궁란) ORCID logo https://orcid.org/0000-0001-7182-9535
Park, Kook In(박국인) ORCID logo https://orcid.org/0000-0001-8499-9293
Park, Min Soo(박민수) ORCID logo https://orcid.org/0000-0002-4395-9938
Shin, Jeong Eun(신정은) ORCID logo https://orcid.org/0000-0002-4376-8541
Eun, Ho Seon(은호선) ORCID logo https://orcid.org/0000-0001-7212-0341
Lee, Jin Sung(이진성) ORCID logo https://orcid.org/0000-0002-1262-8597
Lee, Hyun Joo(이현주) ORCID logo https://orcid.org/0000-0002-1432-0449
Han, Jung Ho(한정호) ORCID logo https://orcid.org/0000-0001-6661-8127
URI
https://ir.ymlib.yonsei.ac.kr/handle/22282913/169881
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