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Ablepharon-Macrostomia syndrome--extension of the phenotype.
Kallish S, McDonald-McGinn DM, van Haelst MM, Bartlett SP, Katowitz JA, Zackai EH. Kallish S, et al. Among authors: katowitz ja. Am J Med Genet A. 2011 Dec;155A(12):3060-2. doi: 10.1002/ajmg.a.34287. Epub 2011 Oct 14. Am J Med Genet A. 2011. PMID: 22002929
Heterozygous mutations of the kinesin KIF21A in congenital fibrosis of the extraocular muscles type 1 (CFEOM1).
Yamada K, Andrews C, Chan WM, McKeown CA, Magli A, de Berardinis T, Loewenstein A, Lazar M, O'Keefe M, Letson R, London A, Ruttum M, Matsumoto N, Saito N, Morris L, Del Monte M, Johnson RH, Uyama E, Houtman WA, de Vries B, Carlow TJ, Hart BL, Krawiecki N, Shoffner J, Vogel MC, Katowitz J, Goldstein SM, Levin AV, Sener EC, Ozturk BT, Akarsu AN, Brodsky MC, Hanisch F, Cruse RP, Zubcov AA, Robb RM, Roggenkäemper P, Gottlob I, Kowal L, Battu R, Traboulsi EI, Franceschini P, Newlin A, Demer JL, Engle EC. Yamada K, et al. Nat Genet. 2003 Dec;35(4):318-21. doi: 10.1038/ng1261. Epub 2003 Nov 2. Nat Genet. 2003. PMID: 14595441
Expanding the phenotype of a neurofibromatosis type 1-like syndrome: a patient with a SPRED1 mutation and orbital manifestations.
Lane KA, Anninger WV, Katowitz JA. Lane KA, et al. Among authors: katowitz ja. Ophthalmic Plast Reconstr Surg. 2009 Sep-Oct;25(5):399-401. doi: 10.1097/IOP.0b013e3181b59eea. Ophthalmic Plast Reconstr Surg. 2009. Retraction in: Ophthalmic Plast Reconstr Surg. 2010 Mar-Apr;26(2):145. doi: 10.1097/IOP.0b013e3181da5107. PMID: 19966658 Retracted.
106 results