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Article

[Molecular diagnosis and prenatal diagnosis in a hereditary multiple osteochondromas family].

Beijing da xue xue bao. Yi xue ban = Journal of Peking University. Health sciences - 18 Dec 2013

Tang Ying, Zheng De-zhu, Guo Xiao-yan, Liao Juan, Lan Feng-hua

Abstract excerpt

OBJECTIVE: To identify the mutation in the disease gene and provide prenatal diagnosis for a hereditary multiple osteochondromas (HMO) family. METHODS: The exons of EXT1 gene in the proband with HMO and his family members were amplified by PCR. The products were analyzed by direct sequencing. Prenatal genetic diagnosis was performed by amniocentesis sampling after genotyping the proband. RESULTS: In the family,...

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PMID: 24343072

Genes

EXT1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

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