{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,15]],"date-time":"2026-06-15T10:25:27Z","timestamp":1781519127760,"version":"3.54.1"},"reference-count":106,"publisher":"Elsevier BV","issue":"1-2","license":[{"start":{"date-parts":[[2001,9,1]],"date-time":"2001-09-01T00:00:00Z","timestamp":999302400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Molecular Genetics and Metabolism"],"published-print":{"date-parts":[[2001,9]]},"DOI":"10.1006\/mgme.2001.3226","type":"journal-article","created":{"date-parts":[[2002,9,18]],"date-time":"2002-09-18T19:46:30Z","timestamp":1032378390000},"page":"105-119","source":"Crossref","is-referenced-by-count":63,"title":["Genetic Disorders of Cholesterol Biosynthesis in Mice and Humans"],"prefix":"10.1006","volume":"74","author":[{"given":"Ngozi A.","family":"Nwokoro","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christopher A.","family":"Wassif","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Forbes D.","family":"Porter","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1006\/mgme.2001.3226_RF1","doi-asserted-by":"crossref","first-page":"1414","DOI":"10.1016\/0140-6736(93)90983-N","article-title":"Defective cholesterol biosynthesis in Smith-Lemli-Opitz syndrome","volume":"341","author":"Irons","year":"1993","journal-title":"Lancet"},{"key":"10.1006\/mgme.2001.3226_RF2","doi-asserted-by":"crossref","first-page":"19","DOI":"10.1126\/science.150.3692.19","article-title":"The biological synthesis of cholesterol","volume":"150","author":"Bloch","year":"1965","journal-title":"Science"},{"key":"10.1006\/mgme.2001.3226_RF3","doi-asserted-by":"crossref","first-page":"241","DOI":"10.1146\/annurev.bi.65.070196.001325","article-title":"Protein prenylation: Molecular mechanisms and functional consequences","volume":"65","author":"Zhang","year":"1996","journal-title":"Annu Rev Biochem"},{"key":"10.1006\/mgme.2001.3226_RF4","doi-asserted-by":"crossref","first-page":"559","DOI":"10.1038\/374559a0","article-title":"Chemical structure of sterols that activate oocyte meiosis","volume":"374","author":"Byskov","year":"1995","journal-title":"Nature"},{"key":"10.1006\/mgme.2001.3226_RF5","doi-asserted-by":"crossref","first-page":"728","DOI":"10.1038\/383728a0","article-title":"An oxysterol signalling pathway mediated by the nuclear receptor LXR alpha","volume":"383","author":"Janowski","year":"1996","journal-title":"Nature"},{"key":"10.1006\/mgme.2001.3226_RF6","doi-asserted-by":"crossref","first-page":"145","DOI":"10.1080\/096876899294607","article-title":"Detergent-insoluble glycosphingolipid\/cholesterol-rich membrane domains, lipid rafts and caveolae","volume":"16","author":"Hooper","year":"1999","journal-title":"Mol Membr Biol"},{"key":"10.1006\/mgme.2001.3226_RF7","doi-asserted-by":"crossref","first-page":"191","DOI":"10.1101\/SQB.1997.062.01.025","article-title":"Multiple roles of cholesterol in hedgehog protein biogenesis and signaling","volume":"62","author":"Beachy","year":"1997","journal-title":"Cold Spring Harb Symp Quant Biol"},{"key":"10.1006\/mgme.2001.3226_RF8","doi-asserted-by":"crossref","first-page":"219","DOI":"10.1016\/0009-8981(85)90195-0","article-title":"Mevalonic aciduria: An inborn error of cholesterol biosynthesis?","volume":"152","author":"Berger","year":"1985","journal-title":"Clin Chim Acta"},{"key":"10.1006\/mgme.2001.3226_RF9","doi-asserted-by":"crossref","first-page":"1610","DOI":"10.1056\/NEJM198606193142504","article-title":"Mevalonic aciduria\u2014an inborn error of cholesterol and nonsterol isoprene biosynthesis","volume":"314","author":"Hoffmann","year":"1986","journal-title":"N Engl J Med"},{"key":"10.1006\/mgme.2001.3226_RF10","doi-asserted-by":"crossref","first-page":"915","DOI":"10.1542\/peds.91.5.915","article-title":"Clinical and biochemical phenotype in 11 patients with mevalonic aciduria","volume":"91","author":"Hoffmann","year":"1993","journal-title":"Pediatrics"},{"key":"10.1006\/mgme.2001.3226_RF11","doi-asserted-by":"crossref","first-page":"391","DOI":"10.1023\/A:1005394315300","article-title":"Mevalonate kinase deficiency in a dizygotic twin with mild mevalonic aciduria","volume":"20","author":"Gibson","year":"1997","journal-title":"J Inherit Metab Dis"},{"key":"10.1006\/mgme.2001.3226_RF12","doi-asserted-by":"crossref","first-page":"1523","DOI":"10.1093\/hmg\/8.8.1523","article-title":"Identification and characterization of three novel missense mutations in mevalonate kinase cDNA causing mevalonic aciduria, a disorder of isoprene biosynthesis","volume":"8","author":"Houten","year":"1999","journal-title":"Hum Mol Genet"},{"key":"10.1006\/mgme.2001.3226_RF13","doi-asserted-by":"crossref","first-page":"738","DOI":"10.1007\/BF01800016","article-title":"Mevalonate kinase assay using DEAE-cellulose column chromatography for first-trimester prenatal diagnosis and complementation analysis in mevalonic aciduria","volume":"15","author":"Hoffmann","year":"1992","journal-title":"J Inherit Metab Dis"},{"key":"10.1006\/mgme.2001.3226_RF14","doi-asserted-by":"crossref","first-page":"367","DOI":"10.1023\/A:1005687415434","article-title":"Molecular basis of classical mevalonic aciduria and the hyperimmunoglobulinaemia D and periodic fever syndrome: High frequency of 3 mutations in the mevalonate kinase gene","volume":"23","author":"Houten","year":"2000","journal-title":"J Inherit Metab Dis"},{"key":"10.1006\/mgme.2001.3226_RF15","doi-asserted-by":"crossref","first-page":"129","DOI":"10.1203\/00006450-199308000-00004","article-title":"Decreased plasma ubiquinone-10 concentration in patients with mevalonate kinase deficiency","volume":"34","author":"Hubner","year":"1993","journal-title":"Pediatr Res"},{"key":"10.1006\/mgme.2001.3226_RF16","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/S0065-3101(23)00093-2","article-title":"Inborn errors of cholesterol biosynthesis","volume":"47","author":"Kelley","year":"2000","journal-title":"Adv Pediatr"},{"key":"10.1006\/mgme.2001.3226_RF17","doi-asserted-by":"crossref","first-page":"50","DOI":"10.1097\/00005792-199405000-00002","article-title":"Hyperimmunoglobulinemia D and periodic fever syndrome","volume":"73","author":"Drenth","year":"1994","journal-title":"Medicine (Baltimore)"},{"key":"10.1006\/mgme.2001.3226_RF18","doi-asserted-by":"crossref","first-page":"13229","DOI":"10.1016\/S0021-9258(18)42199-0","article-title":"Molecular cloning of human mevalonate kinase and identification of a missense mutation in the genetic disease mevalonic aciduria","volume":"267","author":"Schafer","year":"1992","journal-title":"J Biol Chem"},{"key":"10.1006\/mgme.2001.3226_RF19","doi-asserted-by":"crossref","first-page":"178","DOI":"10.1038\/9696","article-title":"Mutations in the gene encoding mevalonate kinase cause hyper-IgD and periodic fever syndrome","volume":"22","author":"Drenth","year":"1999","journal-title":"Nature Genet"},{"key":"10.1006\/mgme.2001.3226_RF20","doi-asserted-by":"crossref","first-page":"175","DOI":"10.1038\/9691","article-title":"Mutations in MVK, encoding mevalonate kinase, cause hyperimmunoglobulinaemia D and periodic fever syndrome","volume":"22","author":"Houten","year":"1999","journal-title":"Nature Genet"},{"key":"10.1006\/mgme.2001.3226_RF21","doi-asserted-by":"crossref","first-page":"26756","DOI":"10.1074\/jbc.272.42.26756","article-title":"Identification of an active site alanine in mevalonate kinase through characterization of a novel mutation in mevalonate kinase deficiency","volume":"272","author":"Hinson","year":"1997","journal-title":"J Biol Chem"},{"key":"10.1006\/mgme.2001.3226_RF22","doi-asserted-by":"crossref","first-page":"327","DOI":"10.1086\/302489","article-title":"Identification of a mutation cluster in mevalonate kinase deficiency, including a new mutation in a patient of Mennonite ancestry","volume":"65","author":"Hinson","year":"1999","journal-title":"Am J Hum Genet"},{"key":"10.1006\/mgme.2001.3226_RF23","doi-asserted-by":"crossref","first-page":"19","DOI":"10.1016\/S1388-1981(00)00135-9","article-title":"Biochemical and genetic aspects of mevalonate kinase and its deficiency","volume":"1529","author":"Houten","year":"2000","journal-title":"Biochim Biophys Acta"},{"key":"10.1006\/mgme.2001.3226_RF24","doi-asserted-by":"crossref","first-page":"253","DOI":"10.1038\/sj.ejhg.5200595","article-title":"Organization of the mevalonate kinase (MVK) gene and identification of novel mutations causing mevalonic aciduria and hyperimmunoglobulinaemia D and periodic fever syndrome","volume":"9","author":"Houten","year":"2001","journal-title":"Eur J Hum Genet"},{"key":"10.1006\/mgme.2001.3226_RF25","doi-asserted-by":"crossref","first-page":"210","DOI":"10.1016\/S0022-3476(64)80264-X","article-title":"A newly recognized syndrome of multiple congenital anomalies","volume":"64","author":"Smith","year":"1964","journal-title":"J Pediatr"},{"key":"10.1006\/mgme.2001.3226_RF26","doi-asserted-by":"crossref","first-page":"64","DOI":"10.1136\/jmg.23.1.64","article-title":"The lethal multiple congenital anomaly syndrome of polydactyly, sex reversal, renal hypoplasia, and unilobular lungs","volume":"23","author":"Donnai","year":"1986","journal-title":"J Med Genet"},{"key":"10.1006\/mgme.2001.3226_RF27","doi-asserted-by":"crossref","first-page":"45","DOI":"10.1002\/ajmg.1320260110","article-title":"Smith-Lemli-Opitz syndrome-type II: Multiple congenital anomalies with male pseudohermaphroditism and frequent early lethality","volume":"26","author":"Curry","year":"1987","journal-title":"Am J Med Genet"},{"key":"10.1006\/mgme.2001.3226_RF28","doi-asserted-by":"crossref","first-page":"723","DOI":"10.1002\/ajmg.1320280320","article-title":"Female external genitalia and mullerian duct derivatives in a 46,XY infant with the Smith-Lemli-Opitz syndrome","volume":"28","author":"Bialer","year":"1987","journal-title":"Am J Med Genet"},{"key":"10.1006\/mgme.2001.3226_RF29","doi-asserted-by":"crossref","first-page":"137","DOI":"10.1002\/ajmg.1320050205","article-title":"Borderline normal intelligence in the Smith-Lemli-Opitz (RSH) syndrome","volume":"5","author":"Lowry","year":"1980","journal-title":"Am J Med Genet"},{"key":"10.1006\/mgme.2001.3226_RF30","doi-asserted-by":"crossref","first-page":"251","DOI":"10.1002\/(SICI)1096-8628(19970131)68:3<251::AID-AJMG1>3.0.CO;2-P","article-title":"A new face for an old syndrome","volume":"68","author":"Kelley","year":"1997","journal-title":"Am J Med Genet"},{"key":"10.1006\/mgme.2001.3226_RF31","doi-asserted-by":"crossref","first-page":"558","DOI":"10.1136\/jmg.35.7.558","article-title":"Smith-Lemli-Opitz syndrome: A variable clinical and biochemical phenotype","volume":"35","author":"Ryan","year":"1998","journal-title":"J Med Genet"},{"key":"10.1006\/mgme.2001.3226_RF32","doi-asserted-by":"crossref","first-page":"260","DOI":"10.1002\/(SICI)1096-8628(20000131)90:3<260::AID-AJMG17>3.0.CO;2-R","article-title":"Incidence of Smith-Lemli-Opitz syndrome in Slovakia","volume":"90","author":"Bzduch","year":"2000","journal-title":"Am J Med Genet"},{"key":"10.1006\/mgme.2001.3226_RF33","doi-asserted-by":"crossref","DOI":"10.1002\/1096-8628(20010722)102:1<18::AID-AJMG1376>3.0.CO;2-E","article-title":"Incidence of Smith-Lemli-Opitz syndrome in Ontario, Canada","author":"Nowaczyk","year":"2001","journal-title":"Am J Med Genet"},{"key":"10.1006\/mgme.2001.3226_RF34","doi-asserted-by":"crossref","first-page":"221","DOI":"10.1007\/BF00443506","article-title":"Smith-Lemli-Opitz syndrome: Review and report of two affected siblings","volume":"119","author":"Johnson","year":"1975","journal-title":"Z Kinderheilkd"},{"key":"10.1006\/mgme.2001.3226_RF35","doi-asserted-by":"crossref","first-page":"315","DOI":"10.1002\/(SICI)1096-8628(19970131)68:3<315::AID-AJMG13>3.0.CO;2-W","article-title":"Cholesterol and bile acid replacement therapy in children and adults with Smith-Lemli-Opitz (SLO\/RSH) syndrome","volume":"68","author":"Nwokoro","year":"1997","journal-title":"Am J Med Genet"},{"key":"10.1006\/mgme.2001.3226_RF36","doi-asserted-by":"crossref","first-page":"419","DOI":"10.1002\/(SICI)1096-8628(19980806)78:5<419::AID-AJMG5>3.0.CO;2-G","article-title":"Smith-Lemli-Opitz syndrome: Phenotypic extreme with minimal clinical findings","volume":"78","author":"Nowaczyk","year":"1998","journal-title":"Am J Med Genet"},{"key":"10.1006\/mgme.2001.3226_RF37","doi-asserted-by":"crossref","first-page":"321","DOI":"10.1136\/jmg.37.5.321","article-title":"The Smith-Lemli-Opitz syndrome","volume":"37","author":"Kelley","year":"2000","journal-title":"J Med Genet"},{"key":"10.1006\/mgme.2001.3226_RF38","doi-asserted-by":"crossref","first-page":"214","DOI":"10.1002\/1096-8628(20000918)94:3<214::AID-AJMG7>3.0.CO;2-R","article-title":"Mutation analysis and description of sixteen RSH\/Smith-Lemli-Opitz syndrome patients: Polymerase chain reaction-based assays to simplify genotyping","volume":"94","author":"Krakowiak","year":"2000","journal-title":"Am J Med Genet"},{"key":"10.1006\/mgme.2001.3226_RF39","doi-asserted-by":"crossref","first-page":"413","DOI":"10.1002\/(SICI)1096-8628(19980806)78:5<413::AID-AJMG4>3.0.CO;2-M","article-title":"Variant RSH\/Smith-Lemli-Opitz syndrome with atypical sterol metabolism","volume":"78","author":"Anderson","year":"1998","journal-title":"Am J Med Genet"},{"key":"10.1006\/mgme.2001.3226_RF40","doi-asserted-by":"crossref","first-page":"396","DOI":"10.1002\/1096-8628(20001211)95:4<396::AID-AJMG18>3.0.CO;2-L","article-title":"Difficult prenatal diagnosis in mild Smith-Lemli-Opitz syndrome","volume":"95","author":"Nowaczyk","year":"2000","journal-title":"Am J Med Genet"},{"key":"10.1006\/mgme.2001.3226_RF41","doi-asserted-by":"crossref","first-page":"191","DOI":"10.1002\/1096-8628(20010115)98:2<191::AID-AJMG1030>3.0.CO;2-M","article-title":"Behavior phenotype in the RSH\/Smith-Lemli-Opitz syndrome","volume":"98","author":"Tierney","year":"2001","journal-title":"Am J Med Genet"},{"key":"10.1006\/mgme.2001.3226_RF42","doi-asserted-by":"crossref","first-page":"2256","DOI":"10.1016\/S0021-9258(18)64608-3","article-title":"Preputial gland tumor sterols III: A metabolic path from lanosterol to cholesterol","volume":"235","author":"Kandutsch","year":"1960","journal-title":"J Biol Chem"},{"key":"10.1006\/mgme.2001.3226_RF43","doi-asserted-by":"crossref","first-page":"107","DOI":"10.1056\/NEJM199401133300205","article-title":"Defective cholesterol biosynthesis associated with the Smith-Lemli-Opitz syndrome","volume":"330","author":"Tint","year":"1994","journal-title":"N Engl J Med"},{"key":"10.1006\/mgme.2001.3226_RF44","doi-asserted-by":"crossref","first-page":"89","DOI":"10.1016\/S0022-2275(20)39757-1","article-title":"Markedly increased tissue concentrations of 7-dehydrocholesterol combined with low levels of cholesterol are characteristic of the Smith-Lemli-Opitz syndrome","volume":"36","author":"Tint","year":"1995","journal-title":"J Lipid Res"},{"key":"10.1006\/mgme.2001.3226_RF45","doi-asserted-by":"crossref","first-page":"45","DOI":"10.1016\/0009-8981(95)06038-4","article-title":"Diagnosis of Smith-Lemli-Opitz syndrome by gas chromatography\/mass spectrometry of 7-dehydrocholesterol in plasma, amniotic fluid and cultured skin fibroblasts","volume":"236","author":"Kelley","year":"1995","journal-title":"Clin Chim Acta"},{"key":"10.1006\/mgme.2001.3226_RF46","doi-asserted-by":"crossref","first-page":"1779","DOI":"10.1172\/JCI118223","article-title":"Markedly inhibited 7-dehydrocholesterol-delta 7-reductase activity in liver microsomes from Smith-Lemli-Opitz homozygotes","volume":"96","author":"Shefer","year":"1995","journal-title":"J Clin Invest"},{"key":"10.1006\/mgme.2001.3226_RF47","doi-asserted-by":"crossref","first-page":"1595","DOI":"10.1016\/S0022-2275(20)39745-5","article-title":"Defective conversion of 7-dehydrocholesterol to cholesterol in cultured skin fibroblasts from Smith-Lemli-Opitz syndrome homozygotes","volume":"36","author":"Honda","year":"1995","journal-title":"J Lipid Res"},{"key":"10.1006\/mgme.2001.3226_RF48","doi-asserted-by":"crossref","first-page":"82","DOI":"10.1016\/S0022-3476(95)70261-X","article-title":"Correlation of severity and outcome with plasma sterol levels in variants of the Smith-Lemli-Opitz syndrome","volume":"127","author":"Tint","year":"1995","journal-title":"J Pediatr"},{"key":"10.1006\/mgme.2001.3226_RF49","doi-asserted-by":"crossref","first-page":"263","DOI":"10.1002\/(SICI)1096-8628(19970131)68:3<263::AID-AJMG4>3.0.CO;2-N","article-title":"Clinical and biochemical spectrum of patients with RSH\/Smith-Lemli-Opitz syndrome and abnormal cholesterol metabolism","volume":"68","author":"Cunniff","year":"1997","journal-title":"Am J Med Genet"},{"key":"10.1006\/mgme.2001.3226_RF50","doi-asserted-by":"crossref","first-page":"347","DOI":"10.1002\/(SICI)1096-8628(20000214)90:4<347::AID-AJMG16>3.0.CO;2-7","article-title":"Detection of a common mutation in the RSH or Smith-Lemli-Opitz syndrome by a PCR-RFLP assay: IVS8-1G \u2192 C is found in over sixty percent of US propositi","volume":"90","author":"Yu","year":"2000","journal-title":"Am J Med Genet"},{"key":"10.1006\/mgme.2001.3226_RF51","doi-asserted-by":"crossref","first-page":"402","DOI":"10.1086\/302760","article-title":"Mutational spectrum in the Delta7-sterol reductase gene and genotype-phenotype correlation in 84 patients with Smith-Lemli-Opitz syndrome","volume":"66","author":"Witsch-Baumgartner","year":"2000","journal-title":"Am J Hum Genet"},{"key":"10.1006\/mgme.2001.3226_RF52","doi-asserted-by":"crossref","first-page":"651","DOI":"10.1002\/(SICI)1097-0223(199807)18:7<651::AID-PD316>3.0.CO;2-V","article-title":"Fetal Smith-Lemli-Opitz syndrome can be detected accurately and reliably by measuring amniotic fluid dehydrocholesterols","volume":"18","author":"Tint","year":"1998","journal-title":"Prenat Diagn"},{"key":"10.1006\/mgme.2001.3226_RF53","doi-asserted-by":"crossref","first-page":"376","DOI":"10.1002\/(SICI)1096-8628(19990219)82:5<376::AID-AJMG4>3.0.CO;2-B","article-title":"Prenatal diagnosis of the RSH\/Smith-Lemli-Opitz syndrome","volume":"82","author":"Kratz","year":"1999","journal-title":"Am J Med Genet"},{"key":"10.1006\/mgme.2001.3226_RF54","doi-asserted-by":"crossref","first-page":"68","DOI":"10.1002\/(SICI)1097-0223(199901)19:1<68::AID-PD461>3.0.CO;2-3","article-title":"Prenatal diagnosis of Smith-Lemli-Opitz syndrome in a pregnancy with low maternal serum oestriol and a sex-reversed fetus","volume":"19","author":"Bick","year":"1999","journal-title":"Prenat Diagn"},{"key":"10.1006\/mgme.2001.3226_RF55","doi-asserted-by":"crossref","first-page":"249","DOI":"10.1111\/j.1479-828X.1999.tb03384.x","article-title":"Low maternal serum oestriol at mid-trimester may indicate a fetal disorder of cholesterol biosynthesis","volume":"39","author":"Craig","year":"1999","journal-title":"Aust N Z J Obstet Gynaecol"},{"key":"10.1006\/mgme.2001.3226_RF56","doi-asserted-by":"crossref","first-page":"1899","DOI":"10.1073\/pnas.95.4.1899","article-title":"Molecular cloning and expression of the human delta 7-sterol reductase","volume":"95","author":"Moebius","year":"1998","journal-title":"Proc Natl Acad Sci USA"},{"key":"10.1006\/mgme.2001.3226_RF57","doi-asserted-by":"crossref","first-page":"55","DOI":"10.1086\/301936","article-title":"Mutations in the human sterol delta7-reductase gene at 11q12\u201313 cause Smith-Lemli-Opitz syndrome","volume":"63","author":"Wassif","year":"1998","journal-title":"Am J Hum Genet"},{"key":"10.1006\/mgme.2001.3226_RF58","doi-asserted-by":"crossref","first-page":"8181","DOI":"10.1073\/pnas.95.14.8181","article-title":"Mutations in the Delta7-sterol reductase gene in patients with the Smith-Lemli-Opitz syndrome","volume":"95","author":"Fitzky","year":"1998","journal-title":"Proc Natl Acad Sci USA"},{"key":"10.1006\/mgme.2001.3226_RF59","doi-asserted-by":"crossref","first-page":"329","DOI":"10.1086\/301982","article-title":"Smith-Lemli-Opitz syndrome is caused by mutations in the 7-dehydrocholesterol reductase gene","volume":"63","author":"Waterham","year":"1998","journal-title":"Am J Hum Genet"},{"key":"10.1006\/mgme.2001.3226_RF60","doi-asserted-by":"crossref","first-page":"163","DOI":"10.1006\/mgme.2000.3069","article-title":"RSH\/Smith-Lemli-Opitz syndrome: A multiple congenital anomaly\/mental retardation syndrome due to an inborn error of cholesterol biosynthesis","volume":"71","author":"Porter","year":"2000","journal-title":"Mol Genet Metab"},{"key":"10.1006\/mgme.2001.3226_RF61","doi-asserted-by":"crossref","first-page":"67","DOI":"10.1006\/mgme.2000.3103","article-title":"Carrier frequency of the common mutation IVS8-1G>C in DHCR7 and estimate of the expected incidence of Smith-Lemli-Opitz syndrome","volume":"72","author":"Battaile","year":"2001","journal-title":"Mol Genet Metab"},{"key":"10.1006\/mgme.2001.3226_RF62","article-title":"Frequency and ethnic distribution of the common DHCR7 mutation in the Smith-Lemli-Opitz syndrome","author":"Nowaczyk","year":"2001","journal-title":"Am J Med Genet"},{"key":"10.1006\/mgme.2001.3226_RF63","first-page":"282","article-title":"Carrier frequencies of DHCR7 mutations in West-Austria indicate that Smith-Lemli-Opitz syndrome is among the most common autosomal recessive disorders","volume":"9S1","author":"Loeffler","year":"2001","journal-title":"Eur J Hum Genet"},{"key":"10.1006\/mgme.2001.3226_RF64","doi-asserted-by":"crossref","first-page":"45","DOI":"10.1038\/sj.ejhg.5200579","article-title":"Frequency gradients of DHCR7 mutations in patients with Smith-Lemli-Opitz syndrome in Europe: Evidence for different origins of common mutations","volume":"9","author":"Witsch-Baumgartner","year":"2001","journal-title":"Eur J Hum Genet"},{"key":"10.1006\/mgme.2001.3226_RF65","doi-asserted-by":"crossref","first-page":"305","DOI":"10.1002\/(SICI)1096-8628(19970131)68:3<305::AID-AJMG11>3.0.CO;2-X","article-title":"Clinical effects of cholesterol supplementation in six patients with the Smith-Lemli-Opitz syndrome (SLOS)","volume":"68","author":"Elias","year":"1997","journal-title":"Am J Med Genet"},{"key":"10.1006\/mgme.2001.3226_RF66","doi-asserted-by":"crossref","first-page":"311","DOI":"10.1002\/(SICI)1096-8628(19970131)68:3<311::AID-AJMG12>3.0.CO;2-W","article-title":"Treatment of Smith-Lemli-Opitz syndrome: Results of a multicenter trial","volume":"68","author":"Irons","year":"1997","journal-title":"Am J Med Genet"},{"key":"10.1006\/mgme.2001.3226_RF67","doi-asserted-by":"crossref","first-page":"360","DOI":"10.1002\/1096-8628(20000828)93:5<360::AID-AJMG4>3.0.CO;2-P","article-title":"Cholesterol supplementation with egg yolk increases plasma cholesterol and decreases plasma 7-dehydrocholesterol in Smith-Lemli-Opitz syndrome","volume":"93","author":"Linck","year":"2000","journal-title":"Am J Med Genet"},{"key":"10.1006\/mgme.2001.3226_RF68","doi-asserted-by":"crossref","first-page":"1339","DOI":"10.1016\/S0022-2275(20)33442-8","article-title":"Simvastatin","volume":"41","author":"Jira","year":"2000","journal-title":"J Lipid Res"},{"key":"10.1006\/mgme.2001.3226_RF69","doi-asserted-by":"crossref","first-page":"404","DOI":"10.1016\/S0140-6736(05)65020-9","article-title":"Desmosterolosis: A new inborn error of cholesterol biosynthesis","volume":"348","author":"Clayton","year":"1996","journal-title":"Lancet"},{"key":"10.1006\/mgme.2001.3226_RF70","doi-asserted-by":"crossref","first-page":"145","DOI":"10.1002\/(SICI)1096-8628(19980113)75:2<145::AID-AJMG5>3.0.CO;2-S","article-title":"Clinical phenotype of desmosterolosis","volume":"75","author":"FitzPatrick","year":"1998","journal-title":"Am J Med Genet"},{"key":"10.1006\/mgme.2001.3226_RF71","doi-asserted-by":"crossref","first-page":"399","DOI":"10.1023\/A:1005612120886","article-title":"Desmosterolosis presenting with multiple congenital anomalies and profound developmental delay","volume":"23","author":"Andersson","year":"2000","journal-title":"J Inherit Metab Dis"},{"key":"10.1006\/mgme.2001.3226_RF72","doi-asserted-by":"crossref","first-page":"623","DOI":"10.1002\/ajmg.1320290321","article-title":"A new autosomal recessive lethal chondrodystrophy with congenital hydrops","volume":"29","author":"Greenberg","year":"1988","journal-title":"Am J Med Genet"},{"key":"10.1006\/mgme.2001.3226_RF73","doi-asserted-by":"crossref","first-page":"1008","DOI":"10.1002\/1097-0223(200012)20:12<1008::AID-PD954>3.0.CO;2-S","article-title":"Greenberg dysplasia: First reported case with additional non-skeletal malformations and without consanguinity","volume":"20","author":"Horn","year":"2000","journal-title":"Prenat Diagn"},{"key":"10.1006\/mgme.2001.3226_RF74","doi-asserted-by":"crossref","first-page":"272","DOI":"10.1002\/ajmg.1320470226","article-title":"Hydrops-ectopic calcification-moth-eaten skeletal dysplasia (Greenberg dysplasia): Prenatal diagnosis and further delineation of a rare genetic disorder","volume":"47","author":"Chitayat","year":"1993","journal-title":"Am J Med Genet"},{"key":"10.1006\/mgme.2001.3226_RF75","first-page":"116","article-title":"Abnormal metabolism of 14-dehydrosterols in hydrops-ectopic calcification-moth-eaten skeletal dysplasia","volume":"19","author":"Kelley","year":"2000","journal-title":"Proc Greenwood Gen Cen"},{"key":"10.1006\/mgme.2001.3226_RF76","doi-asserted-by":"crossref","first-page":"233","DOI":"10.1016\/S0005-2760(98)00041-1","article-title":"Human lamin B receptor exhibits sterol C14-reductase activity in Saccharomyces cerevisiae","volume":"1392","author":"Silve","year":"1998","journal-title":"Biochim Biophys Acta"},{"key":"10.1006\/mgme.2001.3226_RF77","doi-asserted-by":"crossref","first-page":"65","DOI":"10.1007\/BF00289453","article-title":"X-linked dominant chondrodysplasia punctata","volume":"53","author":"Happle","year":"1979","journal-title":"Hum Genet"},{"key":"10.1006\/mgme.2001.3226_RF78","doi-asserted-by":"crossref","first-page":"489","DOI":"10.1002\/ajmg.1320570326","article-title":"XXY male with X-linked dominant chondrodysplasia punctata (Happle syndrome)","volume":"57","author":"Sutphen","year":"1995","journal-title":"Am J Med Genet"},{"key":"10.1006\/mgme.2001.3226_RF79","doi-asserted-by":"crossref","first-page":"493","DOI":"10.1002\/ajmg.1320570327","article-title":"X-linked dominant chondrodysplasia punctata\/ichthyosis\/cataract syndrome in males","volume":"57","author":"Happle","year":"1995","journal-title":"Am J Med Genet"},{"key":"10.1006\/mgme.2001.3226_RF80","doi-asserted-by":"crossref","first-page":"1951","DOI":"10.1093\/hmg\/9.13.1951","article-title":"The Conradi-Hunermann-Happle syndrome (CDPX2) and emopamil binding protein: Novel mutations, and somatic and gonadal mosaicism","volume":"9","author":"Has","year":"2000","journal-title":"Hum Mol Genet"},{"key":"10.1006\/mgme.2001.3226_RF81","doi-asserted-by":"crossref","first-page":"213","DOI":"10.1002\/(SICI)1096-8628(19990319)83:3<213::AID-AJMG15>3.0.CO;2-C","article-title":"Abnormal sterol metabolism in patients with Conradi-Hunermann-Happle syndrome and sporadic lethal chondrodysplasia punctata","volume":"83","author":"Kelley","year":"1999","journal-title":"Am J Med Genet"},{"key":"10.1006\/mgme.2001.3226_RF82","doi-asserted-by":"crossref","first-page":"22434","DOI":"10.1074\/jbc.271.37.22434","article-title":"Emopamil-binding protein, a mammalian protein that binds a series of structurally diverse neuroprotective agents, exhibits delta8-delta7 sterol isomerase activity in yeast","volume":"271","author":"Silve","year":"1996","journal-title":"J Biol Chem"},{"key":"10.1006\/mgme.2001.3226_RF83","doi-asserted-by":"crossref","first-page":"286","DOI":"10.1038\/10350","article-title":"Mutations in a delta 8-delta 7 sterol isomerase in the tattered mouse and X-linked dominant chondrodysplasia punctata","volume":"22","author":"Derry","year":"1999","journal-title":"Nature Genet"},{"key":"10.1006\/mgme.2001.3226_RF84","doi-asserted-by":"crossref","first-page":"291","DOI":"10.1038\/10357","article-title":"Mutations in the gene encoding 3 beta-hydroxysteroid-delta 8, delta 7-isomerase cause X-linked dominant Conradi-Hunermann syndrome","volume":"22","author":"Braverman","year":"1999","journal-title":"Nature Genet"},{"key":"10.1006\/mgme.2001.3226_RF85","doi-asserted-by":"crossref","first-page":"27","DOI":"10.1007\/BF00442399","article-title":"The CHILD syndrome","volume":"134","author":"Happle","year":"1980","journal-title":"Eur J Pediatr"},{"key":"10.1006\/mgme.2001.3226_RF86","doi-asserted-by":"crossref","first-page":"210","DOI":"10.1159\/000246548","article-title":"The CHILD nevus: A distinct skin disorder","volume":"191","author":"Happle","year":"1995","journal-title":"Dermatology"},{"key":"10.1006\/mgme.2001.3226_RF87","doi-asserted-by":"crossref","first-page":"339","DOI":"10.1002\/(SICI)1096-8628(20000214)90:4<339::AID-AJMG15>3.0.CO;2-5","article-title":"Mutations in the NSDHL gene, encoding a 3beta-hydroxysteroid dehydrogenase, cause CHILD syndrome","volume":"90","author":"Konig","year":"2000","journal-title":"Am J Med Genet"},{"key":"10.1006\/mgme.2001.3226_RF88","doi-asserted-by":"crossref","first-page":"478","DOI":"10.1101\/gr.6.6.478","article-title":"Transcription mapping in a 700-kb region around the DXS52 locus in Xq28: Isolation of six novel transcripts and a novel ATPase isoform (hPMCA5)","volume":"6","author":"Heiss","year":"1996","journal-title":"Genome Res"},{"key":"10.1006\/mgme.2001.3226_RF89","doi-asserted-by":"crossref","first-page":"328","DOI":"10.1002\/(SICI)1096-8628(20000214)90:4<328::AID-AJMG13>3.0.CO;2-F","article-title":"CHILD syndrome caused by deficiency of 3beta-hydroxysteroid-delta8, delta7-isomerase","volume":"90","author":"Grange","year":"2000","journal-title":"Am J Med Genet"},{"key":"10.1006\/mgme.2001.3226_RF90","doi-asserted-by":"crossref","first-page":"823","DOI":"10.1016\/S0190-9622(97)70031-8","article-title":"Systematized inflammatory epidermal nevus with symmetrical involvement: An unusual case of CHILD syndrome?","volume":"36","author":"Fink-Puches","year":"1997","journal-title":"J Am Acad Dermatol"},{"key":"10.1006\/mgme.2001.3226_RF91","doi-asserted-by":"crossref","first-page":"248","DOI":"10.1016\/S0190-9622(89)70169-9","article-title":"X-linked dominant Conradi-Hunermann syndrome presenting as congenital erythroderma","volume":"21","author":"Kalter","year":"1989","journal-title":"J Am Acad Dermatol"},{"key":"10.1006\/mgme.2001.3226_RF92","doi-asserted-by":"crossref","first-page":"403","DOI":"10.1126\/science.285.5426.403","article-title":"Differences in left-right axis pathways in mouse and chick: Functions of FGF8 and SHH","volume":"285","author":"Meyers","year":"1999","journal-title":"Science"},{"key":"10.1006\/mgme.2001.3226_RF93","doi-asserted-by":"crossref","first-page":"30843","DOI":"10.1074\/jbc.274.43.30843","article-title":"Embryonic lethality and defective neural tube closure in mice lacking squalene synthase","volume":"274","author":"Tozawa","year":"1999","journal-title":"J Biol Chem"},{"key":"10.1006\/mgme.2001.3226_RF94","doi-asserted-by":"crossref","first-page":"9197","DOI":"10.1074\/jbc.272.14.9197","article-title":"Farnesol-derived dicarboxylic acids in the urine of animals treated with zaragozic acid A or with farnesol","volume":"272","author":"Bostedor","year":"1997","journal-title":"J Biol Chem."},{"key":"10.1006\/mgme.2001.3226_RF95","doi-asserted-by":"crossref","first-page":"151","DOI":"10.1017\/S0016672300003499","article-title":"Striated, a new sex-linked gene in the house mouse","volume":"4","author":"Phillips","year":"1963","journal-title":"Genet Res"},{"key":"10.1006\/mgme.2001.3226_RF96","doi-asserted-by":"crossref","first-page":"91","DOI":"10.1017\/S0016672300012866","article-title":"Bare-patches, a new sex-linked gene in the mouse, associated with a high production of XO females. I. A preliminary report of breeding experiments","volume":"22","author":"Phillips","year":"1973","journal-title":"Genet Res"},{"key":"10.1006\/mgme.2001.3226_RF97","unstructured":"Lyon, M, F, Rastan, S, Brown SD (Eds. ). Genetic Variants and Strains of the Laboratory Mouse, 3rd ed., Vol. 1. New York: Oxford Univ. Press."},{"key":"10.1006\/mgme.2001.3226_RF98","doi-asserted-by":"crossref","first-page":"24","DOI":"10.1007\/BF00285392","article-title":"Homologous genes for X-linked chondrodysplasia punctata in man and mouse","volume":"63","author":"Happle","year":"1983","journal-title":"Human Genet"},{"key":"10.1006\/mgme.2001.3226_RF99","doi-asserted-by":"crossref","first-page":"171","DOI":"10.1007\/BF00352233","article-title":"Genetic mapping of the X-linked dominant mutations striated (Str) and bare patches (Bpa) to a 600-kb region of the mouse X Chromosome: Implications for mapping human disorders in Xq28","volume":"4","author":"Angel","year":"1993","journal-title":"Mamm Genome"},{"key":"10.1006\/mgme.2001.3226_RF100","doi-asserted-by":"crossref","first-page":"465","DOI":"10.1101\/gr.6.6.465","article-title":"A comparative transcription map of the murine bare patches (Bpa) and striated (Str) critical regions and human Xq28","volume":"6","author":"Levin","year":"1996","journal-title":"Genome Res"},{"key":"10.1006\/mgme.2001.3226_RF101","doi-asserted-by":"crossref","first-page":"182","DOI":"10.1038\/9700","article-title":"The gene mutated in bare patches and striated mice encodes a novel 3-beta-hydroxysteroid dehydrogenase","volume":"22","author":"Liu","year":"1999","journal-title":"Nature Genet"},{"key":"10.1006\/mgme.2001.3226_RF102","first-page":"19","article-title":"Location of tattared (Td)","volume":"67","author":"Cattanach","year":"1982","journal-title":"Mouse News Lett"},{"key":"10.1006\/mgme.2001.3226_RF103","doi-asserted-by":"crossref","first-page":"238","DOI":"10.1006\/geno.1996.0549","article-title":"The mouse X-linked developmental mutant, tattered, lies between DXMit55 and Xkh and is associated with hyperkeratinization","volume":"37","author":"Uwechue","year":"1996","journal-title":"Genomics"},{"key":"10.1006\/mgme.2001.3226_RF104","doi-asserted-by":"crossref","first-page":"555","DOI":"10.1093\/hmg\/10.6.555","article-title":"Biochemical, phenotypic and neurophysiological characterization of a genetic mouse model of RSH\/Smith-Lemli-Opitz syndrome","volume":"10","author":"Wassif","year":"2001","journal-title":"Hum Mol Genet"},{"key":"10.1006\/mgme.2001.3226_RF105","doi-asserted-by":"crossref","first-page":"333","DOI":"10.1016\/S0896-6273(00)80051-3","article-title":"Impairment of suckling response, trigeminal neuronal pattern formation, and hippocampal LTD in NMDA receptor epsilon2 subunit mutant mice","volume":"16","author":"Kutsuwada","year":"1996","journal-title":"Neuron"},{"key":"10.1006\/mgme.2001.3226_RF106","first-page":"1225","article-title":"Molecular genetic and gas chromatography-mass spectrometry studies in the Conradi-Huenermann-Happle syndrome; biochemical evidence for somatic and germ line mosaicism","volume":"9S1","author":"Has","year":"2001","journal-title":"Eur J Hum Genet"}],"container-title":["Molecular Genetics and Metabolism"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1096719201932263?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1096719201932263?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2023,12,30]],"date-time":"2023-12-30T03:47:34Z","timestamp":1703908054000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1096719201932263"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2001,9]]},"references-count":106,"journal-issue":{"issue":"1-2","published-print":{"date-parts":[[2001,9]]}},"alternative-id":["S1096719201932263"],"URL":"https:\/\/doi.org\/10.1006\/mgme.2001.3226","relation":{},"ISSN":["1096-7192"],"issn-type":[{"value":"1096-7192","type":"print"}],"subject":[],"published":{"date-parts":[[2001,9]]}}}