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Article

[Genetic diagnosis for a Chinese Han family with hereditary multiple osteochondromas].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 1 Dec 2013

Huang Xue-shuang, Liu Jian-shu, Jiang Hai-ou, Quan Qing-li, Shen Xiao-qing

Abstract excerpt

OBJECTIVE: To identify the genetic cause for a Chinese Han family affected with hereditary multiple osteochondromas. METHODS: Two patients, five unaffected relatives of the family and 100 unrelated healthy controls were collected. The coding sequences and intron/exon boundaries of EXT1 gene were...

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Identifiers

PMID: 24327138
DOI: 10.3760/cma.j.issn.1003-9406.2013.06.002

Genes

EXT1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-24327138-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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