지원사업
학술연구/단체지원/교육 등 연구자 활동을 지속하도록 DBpia가 지원하고 있어요.
커뮤니티
연구자들이 자신의 연구와 전문성을 널리 알리고, 새로운 협력의 기회를 만들 수 있는 네트워킹 공간이에요.
논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 저널정보
- 대한소아소화기영양학회 Pediatric Gastroenterology, Hepatology & Nutrition Pediatric Gastroenterology, Hepatology & Nutrition 제11권 제1호
- 발행연도
- 2008.1
- 수록면
- 60 - 64 (5page)
이용수
초록· 키워드
오류제보하기
Kabuki syndrome is characterized by peculiar facial features, developmental delay, and mental retardation. Congenital hepatic abnormalities in Kabuki syndrome patients have been sporadically reported in the literature and consist of extrahepatic biliary atresia, neonatal sclerosing cholangitis, and transient neonatal cholestasis. We report here a case of congenital hepatic fibrosis in a patient with Kabuki syndrome. To our knowledge, only one case of congenital hepatic fibrosis has been reported in the setting of Kabuki syndrome.
목차
등록된 정보가 없습니다.
참고문헌 (14)
참고문헌 신청
Adam MP / 2004 / Kabuki syndrome / a review. Clin Genet 67 : 209 ~ 219
Ewart-Toland A / 1998 / Severe congenital anomalies requiring transplantation in children with Kabuki syndrome / Am J Med Genet 80 : 362 ~ 367
Isidor B / 2007 / Kabuki syndrome and neonatal cholestasis: report of a new case and review of literature / J Pediatr Gastroenterol Nutr 45 : 261 ~ 264
Kawame H / 1999 / Phenotypic spectrum and management issues in Kabuki syndrome / J Pediatr 134 : 480 ~ 485
McGaughran JM / 2000 / Biliary atresia in Kabuki syndrome / Am J Med Genet 91 : 157 ~ 158
Ewart-Toland A / 1998 / Severe congenital anomalies requiring transplantation in children with Kabuki syndrome / Am J Med Genet 80 : 362 ~ 367
Isidor B / 2007 / Kabuki syndrome and neonatal cholestasis: report of a new case and review of literature / J Pediatr Gastroenterol Nutr 45 : 261 ~ 264
Kawame H / 1999 / Phenotypic spectrum and management issues in Kabuki syndrome / J Pediatr 134 : 480 ~ 485
McGaughran JM / 2000 / Biliary atresia in Kabuki syndrome / Am J Med Genet 91 : 157 ~ 158
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한국인 Kabuki 증후군 환아들의 임상적 표현형 및 세포유전학적 양상
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Hepatitis Virus Induced Hepatic Inflammation and Fibrosis
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