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한국인 가족에 발생한 백색 해면상 모반 증례

Other Titles
 A Familial Case of White Sponge Nevus in a Korean Family 
Authors
 김학진  ;  양동현  ;  장향란  ;  김진  ;  최아진  ;  신경진  ;  허종기  ;  박광호 
Citation
 Korean Journal of Oral and Maxillofacial Pathology (대한구강악안면병리학회지), Vol.41(6) : 295-300, 2017 
Journal Title
 Korean Journal of Oral and Maxillofacial Pathology (대한구강악안면병리학회지) 
ISSN
 1225-1577 
Issue Date
2017
Keywords
White lesion ; White sponge nevus ; Keratin 13 ; Keratin 4 ; Mutation
Abstract
White sponge nevus (WSN) is a rare autosomal dominant disorder characterised by rough thickening, fissure formation, and a whitish colour change in the oral mucosa. This disorder predominantly affects the nonkeratinized stratified squamous epithelium of the mucosa. We experienced a familial case of WSN (i.e., a mother and her two daughters) and performed keratin gene analysis and immunohistochemical staining. The results of a mutation analysis revealed the presence of a heterozygous missense mutation 344T to G in KRT13, predicting an amino acid change leucine (L) to arginine (R), in the 1A domain of the KRT13 polypeptide. Immunohistochemically, the loss of keratin 4 expression was found.
DOI
10.17779/KAOMP.2017.41.6.006
Appears in Collections:
1. Journal Papers (연구논문) > 2. College of Dentistry (치과대학) > Dept. of Oral Pathology (구강병리학교실)
1. Journal Papers (연구논문) > 2. College of Dentistry (치과대학) > Dept. of Oral and Maxillofacial Surgery (구강악안면외과학교실)
1. Journal Papers (연구논문) > 1. College of Medicine (의과대학) > Dept. of Forensic Medicine (법의학과)
1. Journal Papers (연구논문) > 5. Research Institutes (연구소) > Oral Cancer Research Institute (구강종양연구소)
Yonsei Authors
김진(Kim, Jin)
김학진(Kim, Hak Jin) ORCID logo https://orcid.org/0000-0001-6063-3406
박광호(Park, Kwang Ho)
신경진(Shin, Kyoung Jin) ORCID logo https://orcid.org/0000-0002-1059-9665
장향란(Zhang, Xiang Lan)
허종기(Huh, Jong Ki) ORCID logo https://orcid.org/0000-0002-7381-3972
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URI
https://ir.ymlib.yonsei.ac.kr/handle/22282913/161726
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