Primate genome gain and loss: a bone dysplasia, muscular dystrophy, and bone cancer syndrome resulting from mutated retroviral-derived MTAP transcripts.

doi:10.1016/j.ajhg.2012.02.024

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Article

Primate genome gain and loss: a bone dysplasia, muscular dystrophy, and bone cancer syndrome resulting from mutated retroviral-derived MTAP transcripts.

American journal of human genetics - 6 Apr 2012

Camacho-Vanegas Olga, Camacho Sandra Catalina, Till Jacob, Miranda-Lorenzo Irene, Terzo Esteban, Ramirez Maria Celeste, Schramm Vern, Cordovano Grace, Watts Giles, Mehta Sarju, Kimonis Virginia, Hoch Benjamin, Philibert Keith D, Raabe Carsten A, Bishop David F, Glucksman Marc J, Martignetti John A

Abstract excerpt

Diaphyseal medullary stenosis with malignant fibrous histiocytoma (DMS-MFH) is an autosomal-dominant syndrome characterized by bone dysplasia, myopathy, and bone cancer. We previously mapped the DMS-MFH tumor-suppressing-gene locus to chromosomal region 9p21-22 but failed to identify mutations in known genes in this region. We now demonstrate that DMS-MFH results from mutations in the most proximal of three...

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Identifiers

PMID: 22464254
DOI: 10.1016/j.ajhg.2012.02.024
PMCID: PMC3322221

Genes

MTAP

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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