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[Analysis of prenatal phenotype and pathogenetic variant in a fetus with Papillorenal syndrome].

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

Li Jie, Yin Shaowei, Yang Zeyu, Li Meihui, Liu Caixia, Li-Ling Jesse, Lyu Yuan

Abstract excerpt

OBJECTIVE: To diagnose a fetus with Papillorenal syndrome by prenatal ultrasonography and genetic testing, and to correlate its genotype with phenotype. METHODS: Ultrasound finding of the fetus was reviewed. Muscle sample of the abortus was taken, and genetic variant related to the clinical phenotype was screened by whole exome sequencing (WES). Suspected pathogenic variant was verified by Sanger sequencing....

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Identifiers

PMID: 32761592
DOI: 10.3760/cma.j.issn.1003-9406.2020.08.010

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