Article
Mutational spectrum in the PEX7 gene and functional analysis of mutant alleles in 78 patients with rhizomelic chondrodysplasia punctata type 1.
American journal of human genetics - 1 Mar 2002
Motley Alison M, Brites Pedro, Gerez Lisya, Hogenhout Eveline, Haasjes Janet, Benne Rob, Tabak Henk F, Wanders Ronald J A, Waterham Hans R
Abstract excerpt
Rhizomelic chondrodysplasia punctata (RCDP) is a genetically heterogeneous, autosomal recessive disorder of peroxisomal metabolism that is clinically characterized by symmetrical shortening of the proximal long bones, cataracts, periarticular calcifications, multiple joint contractures, and psychomotor retardation. Most patients with RCDP have mutations in the PEX7 gene encoding peroxin 7, the cytosolic...
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