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[Clinical characteristics and identification of a novel IL10RA variant in association with very early-onset inflammatory bowel disease].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Sept 2022

Dong Rui, Fu Xiaoli, Yang Haiying, Bai Yuexia, Lyu Yuqiang, Gao Min, Gai Zhongtao, Liu Yi

Abstract excerpt

OBJECTIVE: To carry out clinical and genetic analysis for an infant manifesting perianal lesions, diarrhea and multiple intestinal perforations. METHODS: Genomic DNA of the infant was extracted and subjected to targeted capture exome sequencing. Candidate variants were verified by Sanger sequencing of his family members. RESULTS: The patient was found to harbor c.301C>T and c.188+1G>A compound heterozygous...

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PMID: 36082572
DOI: 10.3760/cma.j.cn511374-20210702-00564

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