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Phenotypic and mutational spectrum of ROR2-related Robinow syndrome.
Lima AR, Ferreira BM, Zhang C, Jolly A, Du H, White JJ, Dawood M, Lins TC, Chiabai MA, van Beusekom E, Cordoba MS, Caldas Rosa ECC, Kayserili H, Kimonis V, Wu E, Mellado C, Aggarwal V, Richieri-Costa A, Brunoni D, Canó TM, Jorge AAL, Kim CA, Honjo R, Bertola DR, Dandalo-Girardi RM, Bayram Y, Gezdirici A, Yilmaz-Gulec E, Gumus E, Yilmaz GC, Okamoto N, Ohashi H, Coban-Akdemir Z, Mitani T, Jhangiani SN, Muzny DM, Regattieri NAP, Pogue R, Pereira RW, Otto PA, Gibbs RA, Ali BR, van Bokhoven H, Brunner HG, Sutton VR, Lupski JR, Vianna-Morgante AM, Carvalho CMB, Mazzeu JF. Lima AR, et al. Among authors: richieri costa a. Hum Mutat. 2022 Jul;43(7):900-918. doi: 10.1002/humu.24375. Epub 2022 May 10. Hum Mutat. 2022. PMID: 35344616 Free PMC article.
Waardenburg syndrome: clinical differentiation between types I and II.
Pardono E, van Bever Y, van den Ende J, Havrenne PC, Iughetti P, Maestrelli SR, Costa F O, Richieri-Costa A, Frota-Pessoa O, Otto PA. Pardono E, et al. Am J Med Genet A. 2003 Mar 15;117A(3):223-35. doi: 10.1002/ajmg.a.10193. Am J Med Genet A. 2003. PMID: 12599185
Tetrasomy 18p: tentative delineation of a syndrome.
Batista DA, Vianna-Morgante AM, Richieri-Costa A. Batista DA, et al. J Med Genet. 1983 Apr;20(2):144-7. doi: 10.1136/jmg.20.2.144. J Med Genet. 1983. PMID: 6842551 Free PMC article.
190 results