Novel mutation in TSPAN12 leads to autosomal recessive inheritance of congenital vitreoretinal disease with intra-familial phenotypic variability

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.