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[Clinical and genetic analysis of a Chinese pedigree affected with Smith-Lemli-Opitz syndrome].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Nov 2020

Gao Chao, Duan Jiali, Zhang Pei, Gao Yang, Zhang Yanmin, Wang Yanli, An Shuang, Huang Jiaojiao

Abstract excerpt

OBJECTIVE: To explore the clinical phenotype and pathogenic variants in a Chinese pedigree affected with Smith-Lemli-Opitz syndrome. METHODS: Peripheral blood samples were collected from five members, including two affected ones, from the pedigree for the extraction of genomic DNA. Whole exome sequencing was carried out, and candidate variants were verified by Sanger sequencing as well as reverse transcription...

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PMID: 33179238
DOI: 10.3760/cma.j.cn511374-20190929-00502

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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