Article
[Prenatal diagnosis and pedigree analysis of a case of Nail-patella syndrome].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Nov 2020
Cui Yue, Liu Jianbing, Gu Meng, Wang Qiuwei, Yun Qi, Xu Jun, Yu Bin
Abstract excerpt
OBJECTIVE: To carried out prenatal diagnosis and genetic analysis for a case with Nail-patella syndrome. METHODS: Based on the clinical phenotype and prenatal imaging, genetic testing and prenatal diagnosis were carried out through whole exome sequencing (WES) and Sanger sequencing. RESULTS: Analysis of amniotic fluid showed that the fetus has carried a heterozygous c.139+1G>T splicing site variant [Chr9(GRCh37):...
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