Genetic epidemiology approach to estimating birth incidence and current disease prevalence for rhizomelic chondrodysplasia punctata
Rhizomelic chondrodysplasia punctata (RCDP) is an inherited ultra-rare disease which results in severely impaired physical and mental development. Mutations in one of five genes involved in plasmalogen biosynt...
Source: Orphanet Journal of Rare Diseases - Category: Internal Medicine Authors: Tarik Luisman, Tara Smith, Shawn Ritchie and Karen E. Malone Tags: Research Source Type: research