Ontology highlight
ABSTRACT:
SUBMITTER: Orr A
PROVIDER: S-EPMC1925147 | biostudies-literature | 2007
REPOSITORIES: biostudies-literature
Orr Andrew A Dubé Marie-Pierre MP Marcadier Julien J Jiang Haiyan H Federico Antonio A George Stanley S Seamone Christopher C Andrews David D Dubord Paul P Holland Simon S Provost Sylvie S Mongrain Vanessa V Evans Susan S Higgins Brent B Bowman Sharen S Guernsey Duane D Samuels Mark M
PloS one 20070801 8
Schnyder crystalline corneal dystrophy (SCCD, MIM 121800) is a rare autosomal dominant disease characterized by progressive opacification of the cornea resulting from the local accumulation of lipids, and associated in some cases with systemic dyslipidemia. Although previous studies of the genetics of SCCD have localized the defective gene to a 1.58 Mbp interval on chromosome 1p, exhaustive sequencing of positional candidate genes has thus far failed to reveal causal mutations. We have ascertain ...[more]