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[Genetic analysis of a child with Congenital insensitivity to pain due to compound heterozygous variants of SCN9A gene].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Nov 2024

Tan Xiaolan, Yang Yuan, Liu Yunqiang

Abstract excerpt

OBJECTIVE: To explore the genetic etiology of a child featuring multiple fractures and congenital insensitivity to pain (CIP). METHODS: A child who had presented at the West China Hospital of Sichuan University on March 16, 2023 for recurrent fractures and CIP was selected as the study subject. Peripheral blood samples of the child and his parents was collected. Trio-whole exome sequencing was carried out....

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PMID: 39528285
DOI: 10.3760/cma.j.cn511374-20240119-00055

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