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학술연구/단체지원/교육 등 연구자 활동을 지속하도록 DBpia가 지원하고 있어요.
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논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 발행연도
- 2023.5
- 수록면
- 19 - 24 (6page)
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초록· 키워드
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Rubinstein-Taybi syndrome (RSTS) is an extremely rare genetic disorder affecting multi-or- gan systems. A tendency to form keloid is one of the common dermatologic manifestations.
We describe a 23-year-old female presented with extensive keloids which developed sponta- neously. She had typical facial features, broad thumbs, and dental defects, which were suspi- cious features of genetic syndrome. Direct sequencing for cyclic-AMP-regulated enhancer binding protein revealed a novel mutation. So far, 23 cases of RSTS have been reported in Korean literature. To the best of our knowledge, this is the first report in Korea to describe confirmed case of RSTS with extensive keloids as a chief manifestation.
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