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Lethal presentation of neurofibromatosis and Noonan syndrome.
Prada CE, Zarate YA, Hagenbuch S, Lovell A, Schorry EK, Hopkin RJ. Prada CE, et al. Am J Med Genet A. 2011 Jun;155A(6):1360-6. doi: 10.1002/ajmg.a.33996. Epub 2011 May 12. Am J Med Genet A. 2011. PMID: 21567923
Mutations in SLC25A46, encoding a UGO1-like protein, cause an optic atrophy spectrum disorder.
Abrams AJ, Hufnagel RB, Rebelo A, Zanna C, Patel N, Gonzalez MA, Campeanu IJ, Griffin LB, Groenewald S, Strickland AV, Tao F, Speziani F, Abreu L, Schüle R, Caporali L, La Morgia C, Maresca A, Liguori R, Lodi R, Ahmed ZM, Sund KL, Wang X, Krueger LA, Peng Y, Prada CE, Prows CA, Schorry EK, Antonellis A, Zimmerman HH, Abdul-Rahman OA, Yang Y, Downes SM, Prince J, Fontanesi F, Barrientos A, Németh AH, Carelli V, Huang T, Zuchner S, Dallman JE. Abrams AJ, et al. Among authors: prada ce. Nat Genet. 2015 Aug;47(8):926-32. doi: 10.1038/ng.3354. Epub 2015 Jul 13. Nat Genet. 2015. PMID: 26168012 Free PMC article.
The sixth international RASopathies symposium: Precision medicine-From promise to practice.
Gripp KW, Schill L, Schoyer L, Stronach B, Bennett AM, Blaser S, Brown A, Burdine R, Burkitt-Wright E, Castel P, Darilek S, Dias A, Dyer T, Ellis M, Erickson G, Gelb BD, Green T, Gross A, Ho A, Holder JL Jr, Inoue SI, Jelin AC, Kennedy A, Klein R, Kontaridis MI, Magoulas P, McConnell DB, McCormick F, Neel BG, Prada CE, Rauen KA, Roberts A, Rodriguez-Viciana P, Rosen N, Rumbaugh G, Sablina A, Solman M, Tartaglia M, Thomas A, Timmer WC, Venkatachalam K, Walsh KS, Wolters PL, Yi JS, Zenker M, Ratner N. Gripp KW, et al. Among authors: prada ce. Am J Med Genet A. 2020 Mar;182(3):597-606. doi: 10.1002/ajmg.a.61434. Epub 2019 Dec 11. Am J Med Genet A. 2020. PMID: 31825160 Free PMC article.
100 results