title: Hypomorphic alleles within the EBP gene cause a phenotype quite different from Conradi-Hünermann-Happle syndrome.
authors.forename: Shiro
authors.initials: S
authors.lastname: Ikegawa
mesh_terms: 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
chemical_list: D002352:Carrier Proteins; D013251:Steroid Isomerases; C090445:EBP protein, human