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Year | Number of Results |
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2005 | 1 |
2015 | 1 |
2024 | 0 |
PubMed for id: 867335
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A homozygous B3GAT3 mutation causes a severe syndrome with multiple fractures, expanding the phenotype of linkeropathy syndromes.
Am J Med Genet A. 2015 Nov;167A(11):2691-6. doi: 10.1002/ajmg.a.37209. Epub 2015 Jun 18.
Am J Med Genet A. 2015.
PMID: 26086840
Free PMC article.
Unusual phenotype with progressive vertebral fusion in a girl with an apparently balanced t(10;20)(p11;p13) translocation.
Philip N, Colleaux L, Sigaudy S, Attié-Bitach T, Missirian C, Moncla A, Mattei MG, Bollini G.
Philip N, et al.
Am J Med Genet A. 2005 Apr 1;134A(1):39-44. doi: 10.1002/ajmg.a.30468.
Am J Med Genet A. 2005.
PMID: 15732060
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