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Article

[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 Sept 2020

Zhao Xiang, Yang Dan, Jia Yumin, Shou Yanling, Wang Liming, Wang Xiangzhi, Fu Jiena, Guo Huafeng, Zhao Jianping, Yin Hao, Zhang Xueyan, Zhu Xiwei, Gao Lijuan, Ma Chaojie, Xie Zedan, Shi Man

Abstract excerpt

OBJECTIVE: To determine the carrier rate of deafness-related genetic variants among 53 873 newborns from Zhengzhou. METHODS: Heel blood samples of the newborns were collected with informed consent from the parents, and 15 loci of 4 genes related to congenital deafness were detected by microarray. RESULTS: In total 2770 newborns were found to carry deafness-related variants, with a carrier rate of 5.142%. 1325...

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Identifiers

PMID: 32820507
DOI: 10.3760/cma.j.cn511374.20191225.00661

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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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