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학술연구/단체지원/교육 등 연구자 활동을 지속하도록 DBpia가 지원하고 있어요.
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논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 저널정보
- 대한소아내분비학회 Annals of Pediatirc Endocrinology & Metabolism Annals of Pediatirc Endocrinology & Metabolism 제13권 제1호
- 발행연도
- 2008.1
- 수록면
- 117 - 121 (5page)
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초록· 키워드
오류제보하기
Noonan syndrome is characterized by short stature, mental retardation, typical facial morphology, webbed neck and congenital heart disease. Noonan syndrome can be inherited in an autosomal dominant manner but all Korean patients with Noonan syndrome have been reported as sporadic cases thus far. In approximately 50-60% of cases, the disease is caused by mutation in the PTPN11 (protein tyrosine phosphatase, nonreceptor type 11) gene on chromosome 12, encoding SHP-2 (Src homology protein-tyrosine phosphatase-2). We have experienced a boy and his father with typical clinical features of Noonan syndrome in whom Asn58Asp mutation of the PTPN11 gene were identified. To the best of our knowledge, this is the first report of genetically confirmed familial Noonan syndrome in Korea.
목차
등록된 정보가 없습니다.
참고문헌 (20)
참고문헌 신청
Ahmed M.L. / 1991 / Noonan's syndrome : abnormalities of the growth hormone/IGF-I axis and the response to treatment with human biosynthetic growth hormone / Acta Paediatr S
Ahn S.Y. / 2005 / Mutational analysis of PTPN11 gene in Noonan syndrome / J Korean Soc Pediatr Endocrinol 10 : 188 ~ 194
Allanson J.E. / 1987 / Noonan syndrome / J Med Genet 24 : 9 ~ 13
Emmerich J. / 1992 / Noonan's syndrome and coagulation factor deficiencies / Lancet 15 (339(8784)) : 19 ~ 21
Hwang I.T. / 2003 / Clinical characteristics and growth responses to GH therapy in children with Noonan syndrome / J Korean Soc Pediatr Endocrinol 8 : 149 ~ 155
Ahn S.Y. / 2005 / Mutational analysis of PTPN11 gene in Noonan syndrome / J Korean Soc Pediatr Endocrinol 10 : 188 ~ 194
Allanson J.E. / 1987 / Noonan syndrome / J Med Genet 24 : 9 ~ 13
Emmerich J. / 1992 / Noonan's syndrome and coagulation factor deficiencies / Lancet 15 (339(8784)) : 19 ~ 21
Hwang I.T. / 2003 / Clinical characteristics and growth responses to GH therapy in children with Noonan syndrome / J Korean Soc Pediatr Endocrinol 8 : 149 ~ 155
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