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Clinical characteristics and gene variants of patients with infantile intrahepatic cholestasis / 中国当代儿科杂志
Chinese Journal of Contemporary Pediatrics ; (12): 91-97, 2021.
Article in Chinese | WPRIM | ID: wpr-879815
ABSTRACT
OBJECTIVE@#To explore the clinical characteristics and genetic findings of patients with infantile intrahepatic cholestasis.@*METHODS@#The clinical data were collected in children who were admitted to the Department of Gastroenterology in Children's Hospital, Capital Institute of Pediatrics from June 2017 to June 2019 and were suspected of inherited metabolic diseases. Next generation sequencing based on target gene panel was used for gene analysis in these children. Sanger sequencing technology was used to verify the genes of the members in this family.@*RESULTS@#Forty patients were enrolled. Pathogenic gene variants were identified in 13 patients (32%), including @*CONCLUSIONS@#The etiology of infantile intrahepatic cholestasis is complex. Next generation sequencing is helpful in the diagnosis of infantile intrahepatic cholestasis.
Subject(s)
Full text: Available Index: WPRIM (Western Pacific) Main subject: Genetic Testing / Cholestasis, Intrahepatic / Alagille Syndrome / Citrullinemia / Mitochondrial Membrane Transport Proteins / High-Throughput Nucleotide Sequencing / Mutation Type of study: Prognostic study Limits: Child / Humans Language: Chinese Journal: Chinese Journal of Contemporary Pediatrics Year: 2021 Type: Article

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Full text: Available Index: WPRIM (Western Pacific) Main subject: Genetic Testing / Cholestasis, Intrahepatic / Alagille Syndrome / Citrullinemia / Mitochondrial Membrane Transport Proteins / High-Throughput Nucleotide Sequencing / Mutation Type of study: Prognostic study Limits: Child / Humans Language: Chinese Journal: Chinese Journal of Contemporary Pediatrics Year: 2021 Type: Article