지원사업
학술연구/단체지원/교육 등 연구자 활동을 지속하도록 DBpia가 지원하고 있어요.
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연구자들이 자신의 연구와 전문성을 널리 알리고, 새로운 협력의 기회를 만들 수 있는 네트워킹 공간이에요.
논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 저널정보
- 대한소아내분비학회 Annals of Pediatirc Endocrinology & Metabolism Annals of Pediatirc Endocrinology & Metabolism 제18권 제3호
- 발행연도
- 2013.1
- 수록면
- 101 - 105 (5page)
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초록· 키워드
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Overgrowth syndromes comprise a diverse group of conditions with unique clinical,behavioral and molecular genetic features. While considerable overlap in presentation sometimes exists, advances in identification of the precise etiology of specific overgrowth disorders continue to improve clinicians’ ability to make an accurate diagnosis. Among them, this paper introduces two classic genetic overgrowth syndromes: Sotos syndrome and Beckwith-Wiedemann syndrome. Historically, the diagnosis was based entirely on clinical findings. However, it is now understood that Sotos syndrome is caused by a variety of molecular genetic alterations resulting in haploinsufficiency of the NSD1 gene at chromosome 5q35 and that Beckwith-Wiedemann syndrome is caused by heterogeneous abnormalities in the imprinting of a number of growth regulatory genes within chromosome 11p15 in the majority of cases. Interestingly, the 11p15 imprinting region is also associated with Russell-Silver syndrome which is a typical growth retardation syndrome. Opposite epigenetic alterations in 11p15 result in opposite clinical features shown in Beckwith-Wiedemann syndrome and Russell-Silver syndrome. Although the exact functions of the causing genes have not yet been completely understood, these overgrowth syndromes can be good models to clarify the complex basis of human growth and help to develop better-directed therapies in the future.
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참고문헌 (27)
참고문헌 신청
Agwu JC / 1999 / Growth in Sotos syndrome / Arch Dis Child 80 : 339 ~ 342
Allanson JE / 1996 / Sotos syndrome: evolution of facial phenotype subjective and objective assessment / Am J Med Genet 65 : 13 ~ 20
Choufani S / 2010 / Beckwith-Wiedemann syndrome / Am J Med Genet C Semin Med Genet 154C : 343 ~ 354
Clericuzio CL / 2009 / Diagnostic criteria and tumor screening for individuals with isolated hemihyperplasia / Genet Med 11 : 220 ~ 222
Cohen MM Jr. / 2005 / Beckwith-Wiedemann syndrome: historical, clinicopathological, and etiopathogenetic perspectives / Pediatr Dev Pathol 8 : 287 ~ 304
Allanson JE / 1996 / Sotos syndrome: evolution of facial phenotype subjective and objective assessment / Am J Med Genet 65 : 13 ~ 20
Choufani S / 2010 / Beckwith-Wiedemann syndrome / Am J Med Genet C Semin Med Genet 154C : 343 ~ 354
Clericuzio CL / 2009 / Diagnostic criteria and tumor screening for individuals with isolated hemihyperplasia / Genet Med 11 : 220 ~ 222
Cohen MM Jr. / 2005 / Beckwith-Wiedemann syndrome: historical, clinicopathological, and etiopathogenetic perspectives / Pediatr Dev Pathol 8 : 287 ~ 304
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