Article
Mutant frizzled-4 disrupts retinal angiogenesis in familial exudative vitreoretinopathy.
Nature genetics - 1 Oct 2002
Robitaille Johane, MacDonald Marcia L E, Kaykas Ajamete, Sheldahl Laird C, Zeisler Jutta, Dubé Marie-Pierre, Zhang Lin-Hua, Singaraja Roshni R, Guernsey Duane L, Zheng Binyou, Siebert Lee F, Hoskin-Mott Ann, Trese Michael T, Pimstone Simon N, Shastry Barkur S, Moon Randall T, Hayden Michael R, Goldberg Y Paul, Samuels Mark E
Abstract excerpt
Familial exudative vitreoretinopathy (FEVR) is a hereditary ocular disorder characterized by a failure of peripheral retinal vascularization. Loci associated with FEVR map to 11q13-q23 (EVR1; OMIM 133780, ref. 1), Xp11.4 (EVR2; OMIM 305390, ref. 2) and 11p13-12 (EVR3; OMIM 605750, ref. 3). Here we have confirmed linkage to the 11q13-23 locus for autosomal dominant FEVR in one large multigenerational family and...
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