Article
Rhizomelic chondrodysplasia punctata is a peroxisomal protein targeting disease caused by a non-functional PTS2 receptor.
Nature genetics - 1 Apr 1997
Motley A M, Hettema E H, Hogenhout E M, Brites P, ten Asbroek A L, Wijburg F A, Baas F, Heijmans H S, Tabak H F, Wanders R J, Distel B
Abstract excerpt
Rhizomelic chondrodysplasia punctata (RCDP) is an autosomal recessive disease characterized clinically by a disproportionately short stature primarily affecting the proximal parts of the extremities, typical dysmorphic facial appearance, congenital contractures and severe growth and mental retardation. Although some patients have single enzyme deficiencies, the majority of RCDP patients (86%) belong to a single...
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