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[Clinical analysis of a child with cardio-facio-cutaneous syndrome due to a de novo variant of MAP2K1 gene].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Oct 2022

Cao Hongyao, Tong Guanglei, Huang Ru, Zhou Taocheng, Zhang Weiwei

Abstract excerpt

OBJECTIVE: To explore the genotype-phenotype correlation of a patient with cardio-facio-cutaneous syndrome (CFCS) due to variant of the MAP2K1 gene. METHODS: DNA was extracted from peripheral blood samples of the infant and his parents and subjected to whole exome sequencing. Candidate variant was verified by Sanger sequencing. RESULTS: The patient had typical CFCS facies and developmental delay, and was found to...

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Identifiers

PMID: 36184098
DOI: 10.3760/cma.j.cn511374-20211019-00827

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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