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BBS1 mutations in a wide spectrum of phenotypes ranging from nonsyndromic retinitis pigmentosa to Bardet-Biedl syndrome.
Estrada-Cuzcano A, Koenekoop RK, Senechal A, De Baere EB, de Ravel T, Banfi S, Kohl S, Ayuso C, Sharon D, Hoyng CB, Hamel CP, Leroy BP, Ziviello C, Lopez I, Bazinet A, Wissinger B, Sliesoraityte I, Avila-Fernandez A, Littink KW, Vingolo EM, Signorini S, Banin E, Mizrahi-Meissonnier L, Zrenner E, Kellner U, Collin RW, den Hollander AI, Cremers FP, Klevering BJ. Estrada-Cuzcano A, et al. Among authors: vingolo em. Arch Ophthalmol. 2012 Nov;130(11):1425-32. doi: 10.1001/archophthalmol.2012.2434. Arch Ophthalmol. 2012. PMID: 23143442
Autosomal dominant simple microphthalmos.
Vingolo EM, Steindl K, Forte R, Zompatori L, Iannaccone A, Sciarra A, Del Porto G, Pannarale MR. Vingolo EM, et al. J Med Genet. 1994 Sep;31(9):721-5. doi: 10.1136/jmg.31.9.721. J Med Genet. 1994. PMID: 7815444 Free PMC article.
121 results