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[Clinical features and genetic testing 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 2021

Che Fengyu, He Chunxia, Zhang Liyu, Gao Xiaopeng, Li Yarong, Yang Ying

Abstract excerpt

OBJECTIVE: To analyze the clinical features and genetic variants of two patients from a pedigree affected with Smith-Lemli-Opitz syndrome and explore their genotype-phenotype correlation. METHODS: Clinical data and family history of the pedigree were collected. Whole exome sequencing was carried out to identify the potential variants. Suspected variants were verified by Sanger sequencing of the family members....

Topics

China
Female
Genetic Testing
Humans
Male
Mutation
Oxidoreductases Acting on CH-CH Group Donors
Pedigree
Smith-Lemli-Opitz Syndrome

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 34729755
DOI: 10.3760/cma.j.cn511374-20201207-00852

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