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Clinical and genetic heterogeneity in Desbuquois dysplasia.
Faivre L, Le Merrer M, Zerres K, Ben Hariz M, Scheffer D, Young ID, Maroteaux P, Munnich A, Cormier-Daire V. Faivre L, et al. Am J Med Genet A. 2004 Jul 1;128A(1):29-32. doi: 10.1002/ajmg.a.30042. Am J Med Genet A. 2004. PMID: 15211652
Desbuquois syndrome.
Le Merrer M, Young ID, Stanescu V, Maroteaux P. Le Merrer M, et al. Among authors: young id. Eur J Pediatr. 1991 Sep;150(11):793-6. doi: 10.1007/BF02026714. Eur J Pediatr. 1991. PMID: 1959544
Further delineation of CANT1 phenotypic spectrum and demonstration of its role in proteoglycan synthesis.
Nizon M, Huber C, De Leonardis F, Merrina R, Forlino A, Fradin M, Tuysuz B, Abu-Libdeh BY, Alanay Y, Albrecht B, Al-Gazali L, Basaran SY, Clayton-Smith J, Désir J, Gill H, Greally MT, Koparir E, van Maarle MC, MacKay S, Mortier G, Morton J, Sillence D, Vilain C, Young I, Zerres K, Le Merrer M, Munnich A, Le Goff C, Rossi A, Cormier-Daire V. Nizon M, et al. Among authors: young i. Hum Mutat. 2012 Aug;33(8):1261-6. doi: 10.1002/humu.22104. Epub 2012 May 22. Hum Mutat. 2012. PMID: 22539336 Free PMC article.
Molecular-cytogenetic detection of a deletion of 1p36.3.
Giraudeau F, Aubert D, Young I, Horsley S, Knight S, Kearney L, Vergnaud G, Flint J. Giraudeau F, et al. Among authors: young i. J Med Genet. 1997 Apr;34(4):314-7. doi: 10.1136/jmg.34.4.314. J Med Genet. 1997. PMID: 9138156 Free PMC article.
1,961 results