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Update on the Toriello-Carey syndrome.
Toriello HV, Colley C, Bamshad M. Toriello HV, et al. Am J Med Genet A. 2016 Oct;170(10):2551-8. doi: 10.1002/ajmg.a.37735. Epub 2016 Aug 11. Am J Med Genet A. 2016. PMID: 27510950 Review.
Oculoectodermal syndrome is a mosaic RASopathy associated with KRAS alterations.
Peacock JD, Dykema KJ, Toriello HV, Mooney MR, Scholten DJ 2nd, Winn ME, Borgman A, Duesbery NS, Hiemenga JA, Liu C, Campbell S, Nickoloff BP, Williams BO, Steensma M. Peacock JD, et al. Among authors: toriello hv. Am J Med Genet A. 2015 Jul;167(7):1429-35. doi: 10.1002/ajmg.a.37048. Epub 2015 Mar 21. Am J Med Genet A. 2015. PMID: 25808193
Wiedemann-Rautenstrauch syndrome.
Toriello HV. Toriello HV. J Med Genet. 1990 Apr;27(4):256-7. doi: 10.1136/jmg.27.4.256. J Med Genet. 1990. PMID: 2325106 Free PMC article. No abstract available.
Toriello-Carey syndrome: delineation and review.
Toriello HV, Carey JC, Addor MC, Allen W, Burke L, Chun N, Dobyns W, Elias E, Gallagher R, Hordijk R, Hoyme G, Irons M, Jewett T, LeMerrer M, Lubinsky M, Martin R, McDonald-McGinn D, Neumann L, Newman W, Pauli R, Seaver L, Tsai A, Wargowsky D, Williams M, Zackai E. Toriello HV, et al. Am J Med Genet A. 2003 Nov 15;123A(1):84-90. doi: 10.1002/ajmg.a.20493. Am J Med Genet A. 2003. PMID: 14556252 Review.
120 results