Phenotypic and Molecular Characteristics of Children with Progressive Familial Intrahepatic Cholestasis in South China.
Wen ZhangRuizhu LinZhikun LuHuiying ShengYi XuXiuzhen LiJing ChengYanna CaiXiaojian MaoLi LiuPublished in: Pediatric gastroenterology, hepatology & nutrition (2020)
The study expands the genotypic spectrum of PFIC. We identified nine novel mutations of PFIC and our findings could help in the diagnosis and treatment of this disease.