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Identification of KIF21A mutations as a rare cause of congenital fibrosis of the extraocular muscles type 3 (CFEOM3).
Yamada K, Chan WM, Andrews C, Bosley TM, Sener EC, Zwaan JT, Mullaney PB, Oztürk BT, Akarsu AN, Sabol LJ, Demer JL, Sullivan TJ, Gottlob I, Roggenkäemper P, Mackey DA, De Uzcategui CE, Uzcategui N, Ben-Zeev B, Traboulsi EI, Magli A, de Berardinis T, Gagliardi V, Awasthi-Patney S, Vogel MC, Rizzo JF 3rd, Engle EC. Yamada K, et al. Among authors: engle ec. Invest Ophthalmol Vis Sci. 2004 Jul;45(7):2218-23. doi: 10.1167/iovs.03-1413. Invest Ophthalmol Vis Sci. 2004. PMID: 15223798
HOXA1 mutations are not a common cause of Duane anomaly.
Tischfield MA, Chan WM, Grunert JF, Andrews C, Engle EC. Tischfield MA, et al. Among authors: engle ec. Am J Med Genet A. 2006 Apr 15;140(8):900-2. doi: 10.1002/ajmg.a.31167. Am J Med Genet A. 2006. PMID: 16528738 Free PMC article. Review. No abstract available.
Clinical characterization of the HOXA1 syndrome BSAS variant.
Bosley TM, Salih MA, Alorainy IA, Oystreck DT, Nester M, Abu-Amero KK, Tischfield MA, Engle EC. Bosley TM, et al. Among authors: engle ec. Neurology. 2007 Sep 18;69(12):1245-53. doi: 10.1212/01.wnl.0000276947.59704.cf. Neurology. 2007. PMID: 17875913 Free PMC article.
148 results