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[Genetic analysis of novel MKKS variants in a Chinese patient with Bardet-Biedl syndrome].

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

Li Hao, Hu Zhangxue

Abstract excerpt

OBJECTIVE: To explore the genetic basis of a Chinese patient with Bardet-Biedl syndrome (BBS). METHODS: Clinical data of the patient was analyzed. Next-generation sequencing was carry out to screen pathogenic variants, and candidate variants were verified by Sanger sequencing and subjected to bioinformatic analysis based on the guidelines from the American College of Medical Genetics and Genomics. RESULTS:...

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PMID: 35810436
DOI: 10.3760/cma.j.cn511374-20220427-00285

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