Hypomorphic alleles within the EBP gene cause a phenotype quite different from Conradi-Hünermann-Happle syndrome.
Ikegawa
Shiro
S
D002352:Carrier Proteins / Q000235:genetics* / Q000494:pharmacology; D002386:Cataract / Q000209:etiology; D002806:Chondrodysplasia Punctata / Q000235:genetics* / Q000473:pathology; D041321:Chromosomes, Human, X / Q000235:genetics*; D006801:Humans; D010641:Phenotype; D013251:Steroid Isomerases / Q000235:genetics* / Q000494:pharmacology; D013577:Syndrome
D002352:Carrier Proteins; D013251:Steroid Isomerases; C090445:EBP protein, human