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[Analysis of pathogenic gene variant in a patient with neonatal Donohue syndrome].

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

Liu Fang, Guo Li, Liang Rujia, Jiao Baoquan

Abstract excerpt

OBJECTIVE: To explore the genetic basis for a newborn infant suspected with Donohue syndrome. METHODS: Whole exome sequencing (WES) was used to screen potential variants in the child. Suspected variants were validated through Sanger sequencing and real-time PCR. RESULTS: The child was found to carry two heterozygous variants in the INSR gene, including c.3258+4(IVS17)A>G and deletion of exon 2, which were...

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PMID: 32034740
DOI: 10.3760/cma.j.issn.1003-9406.2020.02.010

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