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[Genetic and phenotypic analysis of a patient with phosphogylcerate dehydrogenase deficiency].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Feb 2021

Tao Zhiyan, Lu Fang

Abstract excerpt

OBJECTIVE: To explore the genetic basis for a child with ocular anomaly, microcephaly, growth retardation and intrauterine growth restriction. METHODS: The patient underwent ophthalmologic examinations including anterior segment photography, fundus color photography, and fundus fluorescein angiography. The patient and her parents were subjected to whole exome sequencing. Candidate variants were verified by Sanger...

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Identifiers

PMID: 33565074
DOI: 10.3760/cma.j.cn511374-20200622-00462

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