CDPX2


Also found in: Medical.
AcronymDefinition
CDPX2Chondrodysplasia Punctata 2, X-Linked Dominant
References in periodicals archive ?
X-linked Conradi-Hunermann-Happle syndrome (CDPX2) is a rare entity caused by 'sterol-[DELTA]8-[DELTA]7-isomerase' deficiency, encoded by EBP, comprising growth retardation, craniofacial dysmorphisms, epiphyseal calcifications, asymmetric rizomelic shortening, ichthyosis, ocular findings.