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De novo mutations in PLXND1 and REV3L cause Möbius syndrome.
Tomas-Roca L, Tsaalbi-Shtylik A, Jansen JG, Singh MK, Epstein JA, Altunoglu U, Verzijl H, Soria L, van Beusekom E, Roscioli T, Iqbal Z, Gilissen C, Hoischen A, de Brouwer APM, Erasmus C, Schubert D, Brunner H, Pérez Aytés A, Marin F, Aroca P, Kayserili H, Carta A, de Wind N, Padberg GW, van Bokhoven H. Tomas-Roca L, et al. Among authors: carta a. Nat Commun. 2015 Jun 12;6:7199. doi: 10.1038/ncomms8199. Nat Commun. 2015. PMID: 26068067 Free PMC article.
The epidemiology of Moebius syndrome in Italy.
Carta A, Favilla S, Calzetti G, Casalini MC, Ferrari PF, Bianchi B, Simonelli MB, Farci R, Gandolfi S, Mora P. Carta A, et al. Orphanet J Rare Dis. 2021 Apr 7;16(1):162. doi: 10.1186/s13023-021-01808-2. Orphanet J Rare Dis. 2021. PMID: 33827605 Free PMC article.
Leber's hereditary optic neuropathy with childhood onset.
Barboni P, Savini G, Valentino ML, La Morgia C, Bellusci C, De Negri AM, Sadun F, Carta A, Carbonelli M, Sadun AA, Carelli V. Barboni P, et al. Among authors: carta a. Invest Ophthalmol Vis Sci. 2006 Dec;47(12):5303-9. doi: 10.1167/iovs.06-0520. Invest Ophthalmol Vis Sci. 2006. PMID: 17122117
506 results