Clinical variation in X-linked dominant chondrodysplasia punctata (X-linked dominant ichthyosis).
Feldmeyer
L
L
Institute of Cell Biology, ETH Hönggerberg, Zürich, Switzerland. laurence.feldmeyer@cell.biol.ethz.ch
Mevorah
B
B
Grzeschik
K H
KH
Huber
M
M
Hohl
D
D
D000328:Adult; D001483:Base Sequence; D002806:Chondrodysplasia Punctata / Q000235:genetics* / Q000473:pathology; D005260:Female; D016368:Frameshift Mutation; D006801:Humans; D016114:Ichthyosis, X-Linked / Q000235:genetics* / Q000473:pathology; D007231:Infant, Newborn; D013251:Steroid Isomerases / Q000235:genetics
D013251:Steroid Isomerases; C090445:EBP protein, human