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Journal Abstract Search

173 related items for PubMed ID: 34652576

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  • 3. TUBB3 E410K syndrome: Case report and review of the clinical spectrum of TUBB3 mutations.
    Dentici ML, Maglione V, Agolini E, Catena G, Capolino R, Lanari V, Novelli A, Sinibaldi L, Vecchio D, Gonfiantini MV, Macchiaiolo M, Digilio MC, Dallapiccola B, Bartuli A.
    Am J Med Genet A; 2020 Aug; 182(8):1977-1984. PubMed ID: 32573066
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  • 8. Evidence of an asymmetrical endophenotype in congenital fibrosis of extraocular muscles type 3 resulting from TUBB3 mutations.
    Demer JL, Clark RA, Tischfield MA, Engle EC.
    Invest Ophthalmol Vis Sci; 2010 Sep; 51(9):4600-11. PubMed ID: 20393110
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  • 11. Congenital monocular elevation deficiency associated with a novel TUBB3 gene variant.
    Thomas MG, Maconachie GDE, Constantinescu CS, Chan WM, Barry B, Hisaund M, Sheth V, Kuht HJ, Dineen RA, Harieaswar S, Engle EC, Gottlob I.
    Br J Ophthalmol; 2020 Apr; 104(4):547-550. PubMed ID: 31302631
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  • 15. Novel variants in TUBA1A cause congenital fibrosis of the extraocular muscles with or without malformations of cortical brain development.
    Jurgens JA, Barry BJ, Lemire G, Chan WM, Whitman MC, Shaaban S, Robson CD, MacKinnon S, England EM, McMillan HJ, Kelly C, Pratt BM, Care4Rare Canada Consortium, O'Donnell-Luria A, MacArthur DG, Boycott KM, Hunter DG, Engle EC.
    Eur J Hum Genet; 2021 May; 29(5):816-826. PubMed ID: 33649541
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  • 17. KIF21A pathogenic variants cause congenital fibrosis of extraocular muscles type 3.
    Al-Haddad C, Boustany RM, Rachid E, Ismail K, Barry B, Chan WM, Engle E.
    Ophthalmic Genet; 2021 Apr; 42(2):195-199. PubMed ID: 33251926
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  • 19. Clinical and genetic characteristics of Chinese patients with congenital fibrosis of the extraocular muscles.
    Wu J, Huang L, Zhou Y, Xie Y, Mo T, Li N.
    Orphanet J Rare Dis; 2024 Aug 15; 19(1):300. PubMed ID: 39148141
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