Familial Exudative Vitreoretinopathy, EVR5
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References
Gal M, Levanon EY, Hujeirat Y, Khayat M, Pe'er J, Shalev S. Novel mutation in TSPAN12 leads to autosomal recessive inheritance of congenital vitreoretinal disease with intra-familial phenotypic variability. Am J Med Genet A. 2014 Dec;164(12):2996-3002.
PubMedID: 25250762
Poulter JA, Davidson AE, Ali M, Gilmour DF, Parry DA, Mintz-Hittner HA, Carr IM, Bottomley HM, Long VW, Downey LM, Sergouniotis PI, Wright GA, MacLaren RE, Moore AT, Webster AR, Inglehearn CF, Toomes C. Recessive mutations in TSPAN12 cause retinal dysplasia and severe familial exudative vitreoretinopathy (FEVR). Invest Ophthalmol Vis Sci. 2012 May 14;53(6):2873-9.
PubMedID: 22427576