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Delineation of large deletions of the MECP2 gene in Rett syndrome patients, including a familial case with a male proband.
Hardwick SA, Reuter K, Williamson SL, Vasudevan V, Donald J, Slater K, Bennetts B, Bebbington A, Leonard H, Williams SR, Smith RL, Cloosterman D, Christodoulou J. Hardwick SA, et al. Among authors: donald j. Eur J Hum Genet. 2007 Dec;15(12):1218-29. doi: 10.1038/sj.ejhg.5201911. Epub 2007 Aug 22. Eur J Hum Genet. 2007. PMID: 17712354
Arts syndrome is caused by loss-of-function mutations in PRPS1.
de Brouwer AP, Williams KL, Duley JA, van Kuilenburg AB, Nabuurs SB, Egmont-Petersen M, Lugtenberg D, Zoetekouw L, Banning MJ, Roeffen M, Hamel BC, Weaving L, Ouvrier RA, Donald JA, Wevers RA, Christodoulou J, van Bokhoven H. de Brouwer AP, et al. Among authors: donald ja. Am J Hum Genet. 2007 Sep;81(3):507-18. doi: 10.1086/520706. Epub 2007 Aug 3. Am J Hum Genet. 2007. PMID: 17701896 Free PMC article.
467 results