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Delineation of a contiguous gene syndrome with multiple exostoses, enlarged parietal foramina, craniofacial dysostosis, and mental retardation, caused by deletions in the short arm of chromosome 11.
Bartsch O, Wuyts W, Van Hul W, Hecht JT, Meinecke P, Hogue D, Werner W, Zabel B, Hinkel GK, Powell CM, Shaffer LG, Willems PJ. Bartsch O, et al. Among authors: wuyts w. Am J Hum Genet. 1996 Apr;58(4):734-42. Am J Hum Genet. 1996. PMID: 8644736 Free PMC article.
Positional cloning of a gene involved in hereditary multiple exostoses.
Wuyts W, Van Hul W, Wauters J, Nemtsova M, Reyniers E, Van Hul EV, De Boulle K, de Vries BB, Hendrickx J, Herrygers I, Bossuyt P, Balemans W, Fransen E, Vits L, Coucke P, Nowak NJ, Shows TB, Mallet L, van den Ouweland AM, McGaughran J, Halley DJ, Willems PJ. Wuyts W, et al. Hum Mol Genet. 1996 Oct;5(10):1547-57. doi: 10.1093/hmg/5.10.1547. Hum Mol Genet. 1996. PMID: 8894688
Mutations in the EXT1 and EXT2 genes in hereditary multiple exostoses.
Wuyts W, Van Hul W, De Boulle K, Hendrickx J, Bakker E, Vanhoenacker F, Mollica F, Lüdecke HJ, Sayli BS, Pazzaglia UE, Mortier G, Hamel B, Conrad EU, Matsushita M, Raskind WH, Willems PJ. Wuyts W, et al. Am J Hum Genet. 1998 Feb;62(2):346-54. doi: 10.1086/301726. Am J Hum Genet. 1998. PMID: 9463333 Free PMC article.
360 results