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Items: 2

1.
Novel COL2A1 variant (c.619G>A, p.Gly207Arg) manifesting as a phenotype similar to progressive pseudorheumatoid dysplasia and spondyloepiphyseal dysplasia, Stanescu type
Julie Jurgens, Nara Sobreira, Peggy Modaff, Catherine A. Reiser, Soo Hyun Seo, Moon-Woo Seong, Sung Sup Park, Ok Hwa Kim, Tae-Joon Cho, Richard M. Pauli
Hum Mutat. Author manuscript; available in PMC 2016 Oct 1.
Published in final edited form as: Hum Mutat. 2015 Oct; 36(10): 1004–1008. Published online 2015 Aug 6. doi: 10.1002/humu.22839
PMCID:
PMC4575260
AbstractArticlePDF–425K
2.
The gene for hereditary multiple exostoses does not map to the Langer-Giedion region (8q23-q24).
M Le Merrer, K Ben Othmane, V Stanescu, S Lyonnet, L Van Maldergem, G Royer, A Munnich, P Maroteaux
J Med Genet. 1992 Oct; 29(10): 713–715. doi: 10.1136/jmg.29.10.713
PMCID:
PMC1016129
SummaryPage BrowsePDF–887K

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