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A genomic rearrangement resulting in a tandem duplication is associated with split hand-split foot malformation 3 (SHFM3) at 10q24.
de Mollerat XJ, Gurrieri F, Morgan CT, Sangiorgi E, Everman DB, Gaspari P, Amiel J, Bamshad MJ, Lyle R, Blouin JL, Allanson JE, Le Marec B, Wilson M, Braverman NE, Radhakrishna U, Delozier-Blanchet C, Abbott A, Elghouzzi V, Antonarakis S, Stevenson RE, Munnich A, Neri G, Schwartz CE. de Mollerat XJ, et al. Among authors: sangiorgi e. Hum Mol Genet. 2003 Aug 15;12(16):1959-71. doi: 10.1093/hmg/ddg212. Hum Mol Genet. 2003. PMID: 12913067
Rearrangements of chromosome 15 in epilepsy.
Torrisi L, Sangiorgi E, Russo L, Gurrieri F. Torrisi L, et al. Among authors: sangiorgi e. Am J Med Genet. 2001 Summer;106(2):125-8. doi: 10.1002/ajmg.1570. Am J Med Genet. 2001. PMID: 11579432
49 results