Article
A novel TEAD1 mutation is the causative allele in Sveinsson's chorioretinal atrophy (helicoid peripapillary chorioretinal degeneration).
Human molecular genetics - 1 May 2004
Fossdal Ragnheidur, Jonasson Fridbert, Kristjansdottir Gudlaug T, Kong Augustine, Stefansson Hreinn, Gosh Shyamali, Gulcher Jeffrey R, Stefansson Kari
Abstract excerpt
Sveinsson's chorioretinal atrophy (SCRA), also referred to as helicoid peripapillary chorioretinal degeneration or atrophia areata, is an autosomal dominant eye disease, characterized by symmetrical lesions radiating from the optic disc involving the retina and the choroid. Genome-wide linkage analysis mapped the SCRA gene to chromosome 11p15 in 81 patients from a large founder pedigree in Iceland. The parametric...
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