Hepatic phenotypes of HNF1B gene mutations:A case of neonatal cholestasis requiring portoenterostomy

• 作 者: RadanaKotalova PetraDusatkova
• 机 构: DepartmentofPediatrics2ndFacultyofMedicineCharlesUniversityinPragueandUniversityHospitalMotol
• 出 处: 世界胃肠病学杂志：英文版
• 发表日期: 2015年8期
• 关键词: HEPATOCYTE nuclear factor 1-β RENAL CYSTS and diab Hepatocyte nuclear factor 1-β
• 基金项目: Supported by Grants No.NT11457 and No.NT11402(to IGA MZ CR)； grant from Research project(Ministry of Health Care,Czech Republic)of the conceptual development of research organization,No.00064203(to FN

Hepatocyte nuclear factor 1-β(HNF1B)defects cause renal cysts and diabetes syndrome(RCAD),or HNF1B-maturity-onset diabetes of the young.However,the hepatic phenotype of HNF1B variants is not well studied.We present a female neonate born small for her gest