Ontology highlight
ABSTRACT:
SUBMITTER: Ozyurt K
PROVIDER: S-EPMC4372958 | biostudies-literature | 2015 Mar-Apr
REPOSITORIES: biostudies-literature
Ozyurt Kemal K Subasioglu Asli A Ozturk Perihan P Inci Rahime R Ozkan Fuat F Bueno Elena E Cañueto Javier J González Sarmiento Rogelio R
Indian journal of dermatology 20150301 2
Conradi-Hünermann-Happle syndrome (CDPX2, OMIM 302960) is an inherited X-linked dominant variant of chondrodysplasia punctata which primarily affects the skin, bones, and eyes. CDPX2 patients display skin defects, including ichthyotic lesions, follicular atrophoderma, cicatricial alopecia, and less frequently ichthyosiform erythroderma, cataracts, and skeletal abnormalities consisting of short stature, asymmetric shortening of the limbs, epiphyseal stippling, and craniofacial defects. CDPX2 resu ...[more]