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Article

Genetic variation analysis in a Chinese Maffucci syndrome patient.

Journal of cranio-maxillo-facial surgery : official publication of the European Association for Cranio-Maxillo-Facial Surgery - 1 Sept 2015

Xue Yang, Ni Jinwen, Zhou Mi, Wang Weiqi, Liu Yuan, Yang Yaowu, Duan Xiaohong

Abstract excerpt

OBJECTIVE: To report on the molecular genetic analysis of a Chinese patient with Maffucci syndrome. METHODS: Using the genomic DNA extracted from the patient's hemangioma sample, the coding exons and exon/intron splice junctions of the IDH1 and IDH2 genes were amplified by polymerase chain reaction (PCR) and then sequenced. Genomic DNA was extracted from blood and a hemangioma sample from the patient, and also...

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Source

Identifiers

PMID: 26123062
DOI: 10.1016/j.jcms.2015.05.017

Genes

IDH1
IDH2
CHEK2

Provenance

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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