title: High 8-dehydrocholesterol level in a typical case of Conradi-Hunermann-Happle syndrome with a novel H76Y missense mutation.
authors.forename: Ayano
authors.initials: A
authors.lastname: Umekoji
authors.forename: Kazuyoshi
authors.initials: K
authors.lastname: Fukai
authors.forename: Takeshi
authors.initials: T
authors.lastname: Kasama
authors.forename: Toshiaki
authors.initials: T
authors.lastname: Yokoi
authors.forename: Mika
authors.initials: M
authors.lastname: Saito
authors.forename: Akitoshi
authors.initials: A
authors.lastname: Tsuruhara
authors.forename: Masamitsu
authors.initials: M
authors.lastname: Ishii
mesh_terms: D019943:Amino Acid Substitution; D002775:Cholestadienols / Q000097:blood / Q000378:metabolism*; D002806:Chondrodysplasia Punctata / Q000097:blood / Q000235:genetics* / Q000378:metabolism; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008958:Models, Molecular; D020125:Mutation, Missense; D013251:Steroid Isomerases / Q000737:chemistry / Q000235:genetics*
chemical_list: D002775:Cholestadienols; C026359:cholesta-5,8-dien-3 beta-ol; D013251:Steroid Isomerases; C090445:EBP protein, human