Phenotypic and Molecular Characteristics of Children with Progressive Familial Intrahepatic Cholestasis in South China
Author:
Affiliation:
1. Department of Genetics and Endocrinology, Guangzhou Women and Children's Medical Center, Guangzhou, China.
2. Department of Infectious Disease, Guangzhou Women and Children's Medical Center, Guangzhou, China.
Funder
Guangzhou Women and Children's Medical Center
Youth Pilot Project of Guangzhou Institute of Pediatrics
Publisher
The Korean Society of Pediatric Gastroenterology, Hepatology and Nutrition
Subject
Gastroenterology,Hepatology,Pediatrics, Perinatology and Child Health
Link
https://pghn.org/pdf/10.5223/pghn.2020.23.6.558
Cited by 5 articles. 订阅此论文施引文献 订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献
1. Diagnostic algorithm for neonatal intrahepatic cholestasis integrating single‐gene testing and next‐generation sequencing in East Asia;Journal of Gastroenterology and Hepatology;2024-02-07
2. Next-generation sequencing panel test results in pediatric patients with progressive familial intrahepatic cholestasis: a single-center experience;The European Research Journal;2023-11-04
3. A novel heterozygous deletion in ABCB4 gene in a Chinese family with intrahepatic cholestasis of pregnancy, neonatal hyperbilirubinemia, and cholelithiasis: Case reports and literature review;Molecular Genetics & Genomic Medicine;2023-10-03
4. Clinical and genetic characterization of pediatric patients with progressive familial intrahepatic cholestasis type 3 (PFIC3): identification of 14 novel ABCB4 variants and review of the literatures;Orphanet Journal of Rare Diseases;2022-12-22
5. Case series of progressive familial intrahepatic cholestasis type 3: Characterization of variants in ABCB4 in China;Frontiers in Medicine;2022-12-08
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