논문KCI 등재
Diagnosis of Variant Klinefelter Syndrome in a 21-Year-Old Male Who Presented with Sparse Facial Hair
대한피부과학회 (Korean Dermalogical Association)|2012.08|Annals of Dermatology|제24권 제3호|pp. 368-369|DOI http://dx.doi.org/
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참고문헌 (5)
- Visootsak J, "Klinefelter syndrome and its variants: an update and review for the primary pediatrician", Clin Pediatr, 40, pp.639~651 (2001)
- Abramsky L, "47,XXY (Klinefelter syndrome) and 47,XYY: estimated rates of and indication for postnatal diagnosis with implications for prenatal counselling", Prenat Diagn, 17, pp.363~368 (1997)
- Linden MG, "Sex chromosome tetrasomy and pentasomy", Pediatrics, 96, pp.672~682 (1995)
- Salbenblatt JA, "Pituitary-gonadal function in Klinefelter syndrome before and during puberty", Pediatr Res, 19, pp.82~86 (1985)
- Tartaglia N, "48,XXYY, 48,XXXY and 49,XXXXY syndromes: not just variants of Klinefelter syndrome", Acta Paediatr, 100, pp.851~860 (2011)
관련 논문AI추천
Extra X Chromosome in Mosaic Klinefelter Syndrome Is Associated with a Hematologic Malignancy김선희, 장미애, 정철원대한진단검사의학회 · Annals of Laboratory Medicine2013 · 제33권 제4호Early onset of puberty in an obese boy with Klinefelter syndrome이지은, Byoung-Wook Cho, Jee-Young Han, Seung-Eun Kwon, Soon-Ki Kim, Taek Lee대한소아내분비학회 · Annals of Pediatric Endocrinology & Metabolism2016 · 제21권 제1호A 47,X,+t(X;X)(p22.3;p22.3)del(X)(p11.23q11.2),Y Klinefelter Variant with Morbid Obesity김다함, 김영숙, 김원진, 이수진, 이은직, 허지혜, 홍재원연세대학교의과대학 · Yonsei Medical Journal2013 · 제54권 제2호Male hypogonadism caused by a homozygous missense mutation of the LHB geneJie Chen, Wen-ting Wang, Wen-ting Yi, Xiong Wang, Yuan-Qing Cui대한내과학회 · The Korean Journal of Internal Medicine2021 · 제36권 제6호Hypogonadotrophic hypogonadism due to a mutation in the luteinizing hormone β-subunit gene김철식, 이성진, Chang Min Lee, Gun Ha Park, Hyo-Jeong Hwang, Jae Won Song, Sung-Hee Ihm대한내과학회 · The Korean Journal of Internal Medicine2018 · 제33권 제3호A novel compound variant in GNRHR causing congenital idiopathic hypogonadotropic hypogonadism in a young male Korean patientLee Gimin, Lee Mi-Seon, Lee Rosie, Moon Jung-Eun
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