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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
- Appears in Collections:
- 1. College of Medicine (의과대학) > Dept. of Pediatrics (소아과학교실) > 1. Journal Papers
- Yonsei Authors
-
Namgung, Ran(남궁란)
https://orcid.org/0000-0001-7182-9535
Park, Kook In(박국인) https://orcid.org/0000-0001-8499-9293
Park, Min Soo(박민수) https://orcid.org/0000-0002-4395-9938
Shin, Jeong Eun(신정은) https://orcid.org/0000-0002-4376-8541
Eun, Ho Seon(은호선) https://orcid.org/0000-0001-7212-0341
Lee, Jin-Sung(이진성) https://orcid.org/0000-0002-1262-8597
Lee, Hyun Joo(이현주) https://orcid.org/0000-0002-1432-0449
Han, Jung Ho(한정호) https://orcid.org/0000-0001-6661-8127
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