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Multiple mechanisms are implicated in the generation of 5q35 microdeletions in Sotos syndrome.
Tatton-Brown K, Douglas J, Coleman K, Baujat G, Chandler K, Clarke A, Collins A, Davies S, Faravelli F, Firth H, Garrett C, Hughes H, Kerr B, Liebelt J, Reardon W, Schaefer GB, Splitt M, Temple IK, Waggoner D, Weaver DD, Wilson L, Cole T, Cormier-Daire V, Irrthum A, Rahman N; Childhood Overgrowth Collaboration. Tatton-Brown K, et al. Among authors: davies s. J Med Genet. 2005 Apr;42(4):307-13. doi: 10.1136/jmg.2004.027755. J Med Genet. 2005. PMID: 15805156 Free PMC article.
Cutis laxa: a feature of Costello syndrome.
Davies SJ, Hughes HE. Davies SJ, et al. J Med Genet. 1994 Jan;31(1):85. doi: 10.1136/jmg.31.1.85. J Med Genet. 1994. PMID: 7512146 Free PMC article. No abstract available.
Coarctation of the aorta in Kabuki syndrome.
Hughes HE, Davies SJ. Hughes HE, et al. Among authors: davies sj. Arch Dis Child. 1994 Jun;70(6):512-4. doi: 10.1136/adc.70.6.512. Arch Dis Child. 1994. PMID: 8048822 Free PMC article.
Marfan syndrome.
Gray JR, Davies SJ. Gray JR, et al. Among authors: davies sj. J Med Genet. 1996 May;33(5):403-8. doi: 10.1136/jmg.33.5.403. J Med Genet. 1996. PMID: 8733052 Free PMC article. Review. No abstract available.
4,244 results