{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,18]],"date-time":"2026-09-18T16:00:03Z","timestamp":1789747203347,"version":"4.0.1"},"reference-count":89,"publisher":"Elsevier BV","issue":"1-2","license":[{"start":{"date-parts":[[2000,9,1]],"date-time":"2000-09-01T00:00:00Z","timestamp":967766400000},"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":[[2000,9]]},"DOI":"10.1006\/mgme.2000.3069","type":"journal-article","created":{"date-parts":[[2002,9,18]],"date-time":"2002-09-18T19:46:30Z","timestamp":1032378390000},"page":"163-174","source":"Crossref","is-referenced-by-count":94,"title":["RSH\/Smith\u2013Lemli\u2013Opitz Syndrome: A Multiple Congenital Anomaly\/Mental Retardation Syndrome due to an Inborn Error of Cholesterol Biosynthesis"],"prefix":"10.1006","volume":"71","author":[{"given":"Forbes D.","family":"Porter","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1006\/mgme.2000.3069_RF1","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 Pediatrics"},{"key":"10.1006\/mgme.2000.3069_RF2","doi-asserted-by":"crossref","first-page":"255","DOI":"10.1002\/ajmg.1320190208","article-title":"A \u201cnew\u201d lethal multiple congenital anomaly syndrome: Joint contractures, cerebellar hypoplasia, renal hypoplasia, urogenital anomalies, tongue cysts, shortness of limbs, eye abnormalities, defects of the heart, gallbladder agenesis, and ear malformations","volume":"19","author":"Rutledge","year":"1984","journal-title":"Am J Med Genet"},{"key":"10.1006\/mgme.2000.3069_RF3","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.2000.3069_RF4","doi-asserted-by":"crossref","first-page":"45","DOI":"10.1002\/ajmg.1320260110","article-title":"Smith\u2013Lemli\u2013Opitz 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.2000.3069_RF5","doi-asserted-by":"crossref","first-page":"1414","DOI":"10.1016\/0140-6736(93)90983-N","article-title":"Defective cholesterol biosynthesis in Smith\u2013Lemli\u2013Opitz syndrome","volume":"341","author":"Irons","year":"1993","journal-title":"Lancet"},{"key":"10.1006\/mgme.2000.3069_RF6","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.2000.3069_RF7","doi-asserted-by":"crossref","first-page":"55","DOI":"10.1086\/301936","article-title":"Mutations in the human sterol delta7-reductase gene at 11q12-13 cause Smith\u2013Lemli\u2013Opitz syndrome","volume":"63","author":"Wassif","year":"1998","journal-title":"Am J Hum Genet"},{"key":"10.1006\/mgme.2000.3069_RF8","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\u2013Lemli\u2013Opitz syndrome","volume":"95","author":"Fitzky","year":"1998","journal-title":"Proc Natl Acad Sci USA"},{"key":"10.1006\/mgme.2000.3069_RF9","doi-asserted-by":"crossref","first-page":"329","DOI":"10.1086\/301982","article-title":"Smith\u2013Lemli\u2013Opitz 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.2000.3069_RF10","doi-asserted-by":"crossref","first-page":"137","DOI":"10.1002\/ajmg.1320050205","article-title":"Borderline normal intelligence in the Smith\u2013Lemli\u2013Opitz (RSH) syndrome","volume":"5","author":"Lowry","year":"1980","journal-title":"Am J Med Genet"},{"key":"10.1006\/mgme.2000.3069_RF11","series-title":"Diagnosis and Treatment of the Unborn Child","first-page":"43","article-title":"The RSH syndrome: Paradigmatic metabolic malformation syndrome","author":"Opitz","year":"1998"},{"key":"10.1006\/mgme.2000.3069_RF12","first-page":"334","article-title":"Prevalence of Smith\u2013Lemli\u2013Opitz (SLO)","volume":"50","author":"Holmes","year":"1994","journal-title":"Am J Med Genet"},{"key":"10.1006\/mgme.2000.3069_RF13","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\u2013Lemli\u2013Opitz syndrome in Slovakia","volume":"90","author":"Bzduch","year":"2000","journal-title":"Am J Med Genet"},{"key":"10.1006\/mgme.2000.3069_RF14","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.2000.3069_RF15","doi-asserted-by":"crossref","first-page":"558","DOI":"10.1136\/jmg.35.7.558","article-title":"Smith\u2013Lemli\u2013Opitz syndrome: A variable clinical and biochemical phenotype","volume":"35","author":"Ryan","year":"1998","journal-title":"J Med Genet"},{"key":"10.1006\/mgme.2000.3069_RF16","doi-asserted-by":"crossref","first-page":"118","DOI":"10.1002\/(SICI)1096-8628(19980106)75:1<118::AID-AJMG24>3.0.CO;2-O","article-title":"Smith\u2013Lemli\u2013Opitz syndrome in Japan","volume":"75","author":"Tsukahara","year":"1998","journal-title":"Am J Med Genet"},{"key":"10.1006\/mgme.2000.3069_RF17","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\u2013Lemli\u2013Opitz syndrome by a PCR\u2013RFLP 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.2000.3069_RF18","doi-asserted-by":"crossref","first-page":"221","DOI":"10.1007\/BF00443506","article-title":"Smith\u2013Lemli\u2013Opitz syndrome: Review and report of two affected siblings","volume":"119","author":"Johnson","year":"1975","journal-title":"Z Kinderheilkd"},{"key":"10.1006\/mgme.2000.3069_RF19","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\u2013Lemli\u2013Opitz syndrome","volume":"28","author":"Bialer","year":"1987","journal-title":"Am J Med Genet"},{"key":"10.1006\/mgme.2000.3069_RF20","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\u2013Lemli\u2013Opitz (SLO\/RSH) syndrome","volume":"68","author":"Nwokoro","year":"1997","journal-title":"Am J Med Genet"},{"key":"10.1006\/mgme.2000.3069_RF21","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\u2013Lemli\u2013Opitz syndrome: Phenotypic extreme with minimal clinical findings","volume":"78","author":"Nowaczyk","year":"1998","journal-title":"Am J Med Genet"},{"key":"10.1006\/mgme.2000.3069_RF22","doi-asserted-by":"crossref","first-page":"321","DOI":"10.1136\/jmg.37.5.321","article-title":"The Smith\u2013Lemli\u2013Opitz syndrome","volume":"37","author":"Kelley","year":"2000","journal-title":"J Med Genet"},{"key":"10.1006\/mgme.2000.3069_RF23","doi-asserted-by":"crossref","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\u2013Lemli\u2013Opitz 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.2000.3069_RF24","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\u2013Lemli\u2013Opitz syndrome and abnormal cholesterol metabolism","volume":"68","author":"Cunniff","year":"1997","journal-title":"Am J Med Genet"},{"key":"10.1006\/mgme.2000.3069_RF25","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\u2013Lemli\u2013Opitz syndrome","volume":"127","author":"Tint","year":"1995","journal-title":"J Pediatr"},{"key":"10.1006\/mgme.2000.3069_RF26","doi-asserted-by":"crossref","first-page":"402","DOI":"10.1086\/302760","article-title":"Mutational spectrum in the Delta7-sterol reductase gene and genotype\u2013phenotype correlation in 84 patients with Smith\u2013Lemli\u2013Opitz syndrome","volume":"66","author":"Witsch-Baumgartner","year":"2000","journal-title":"Am J Hum Genet"},{"key":"10.1006\/mgme.2000.3069_RF27","doi-asserted-by":"crossref","first-page":"131","DOI":"10.1002\/1098-2779(2000)6:2<131::AID-MRDD7>3.0.CO;2-R","article-title":"Behavioral phenotype of RSH\/Smith\u2013Lemli\u2013Opitz syndrome","volume":"6","author":"Tierney","year":"2000","journal-title":"Ment Retard Dev Disabil Res Rev"},{"key":"10.1006\/mgme.2000.3069_RF28","article-title":"The behavior phenotype in the RSH\/Smith\u2013Lemli\u2013Opitz syndrome","author":"Tierney","year":"2000","journal-title":"Am J Med Genet:"},{"key":"10.1006\/mgme.2000.3069_RF29","doi-asserted-by":"crossref","first-page":"270","DOI":"10.1002\/(SICI)1096-8628(19970131)68:3<270::AID-AJMG5>3.0.CO;2-Q","article-title":"Cardiovascular malformations in Smith\u2013Lemli\u2013Opitz syndrome","volume":"68","author":"Lin","year":"1997","journal-title":"Am J Med Genet"},{"key":"10.1006\/mgme.2000.3069_RF30","doi-asserted-by":"crossref","first-page":"382","DOI":"10.1002\/(SICI)1096-8628(19990219)82:5<382::AID-AJMG5>3.0.CO;2-9","article-title":"Adrenal insufficiency in Smith\u2013Lemli\u2013Opitz syndrome","volume":"82","author":"Andersson","year":"1999","journal-title":"Am J Med Genet"},{"key":"10.1006\/mgme.2000.3069_RF31","doi-asserted-by":"crossref","first-page":"465","DOI":"10.1136\/jmg.27.7.465","article-title":"Smith\u2013Lemli\u2013Opitz syndrome. II. A disorder of the fetal adrenals?","volume":"27","author":"McKeever","year":"1990","journal-title":"J Med Genet"},{"key":"10.1006\/mgme.2000.3069_RF32","doi-asserted-by":"crossref","first-page":"827","DOI":"10.1016\/0039-128X(85)90032-7","article-title":"Possible abnormalities of steroid secretion in children with Smith\u2013Lemli\u2013Opitz syndrome and their parents","volume":"46","author":"Chasalow","year":"1985","journal-title":"Steroids"},{"key":"10.1006\/mgme.2000.3069_RF33","doi-asserted-by":"crossref","first-page":"107","DOI":"10.1056\/NEJM199401133300205","article-title":"Defective cholesterol biosynthesis associated with the Smith\u2013Lemli\u2013Opitz syndrome","volume":"330","author":"Tint","year":"1994","journal-title":"N Engl J Med"},{"key":"10.1006\/mgme.2000.3069_RF34","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\u2013Lemli\u2013Opitz syndrome","volume":"36","author":"Tint","year":"1995","journal-title":"J Lipid Res"},{"key":"10.1006\/mgme.2000.3069_RF35","doi-asserted-by":"crossref","first-page":"45","DOI":"10.1016\/0009-8981(95)06038-4","article-title":"Diagnosis of Smith\u2013Lemli\u2013Opitz 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.2000.3069_RF36","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\u2013Lemli\u2013Opitz homozygotes","volume":"96","author":"Shefer","year":"1995","journal-title":"J Clin Invest"},{"key":"10.1006\/mgme.2000.3069_RF37","doi-asserted-by":"crossref","first-page":"288","DOI":"10.1002\/(SICI)1096-8628(19970131)68:3<288::AID-AJMG8>3.0.CO;2-I","article-title":"Screening for abnormal cholesterol biosynthesis in the Smith\u2013Lemli\u2013Opitz syndrome: Rapid determination of plasma 7-dehydrocholesterol by ultraviolet spectrometry","volume":"68","author":"Honda","year":"1997","journal-title":"Am J Med Genet"},{"key":"10.1006\/mgme.2000.3069_RF38","doi-asserted-by":"crossref","first-page":"855","DOI":"10.1002\/pd.1970150911","article-title":"Prenatal diagnosis of Smith\u2013Lemli\u2013Opitz syndrome is possible by measurement of 7-dehydrocholesterol in amniotic fluid","volume":"15","author":"Dallaire","year":"1995","journal-title":"Prenat Diagn"},{"key":"10.1006\/mgme.2000.3069_RF39","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\u2013Lemli\u2013Opitz 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.2000.3069_RF40","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\u2013Lemli\u2013Opitz syndrome","volume":"82","author":"Kratz","year":"1999","journal-title":"Am J Med Genet"},{"key":"10.1006\/mgme.2000.3069_RF41","doi-asserted-by":"crossref","first-page":"432","DOI":"10.1023\/A:1005371104822","article-title":"Smith\u2013Lemli\u2013Opitz syndrome: Deficient delta 7-reductase activity in cultured skin fibroblasts and chorionic villus fibroblasts and its application to pre- and postnatal detection","volume":"20","author":"Wanders","year":"1997","journal-title":"J Inherit Metab Dis"},{"key":"10.1006\/mgme.2000.3069_RF42","doi-asserted-by":"crossref","first-page":"355","DOI":"10.1002\/(SICI)1097-0223(199704)17:4<355::AID-PD78>3.0.CO;2-M","article-title":"First-trimester diagnosis of Smith\u2013Lemli\u2013Opitz syndrome","volume":"17","author":"Sharp","year":"1997","journal-title":"Prenat Diagn"},{"key":"10.1006\/mgme.2000.3069_RF43","doi-asserted-by":"crossref","first-page":"355","DOI":"10.1002\/(SICI)1096-8628(19990212)82:4<355::AID-AJMG16>3.0.CO;2-4","article-title":"Levels of unconjugated estriol and other maternal serum markers in pregnancies with Smith\u2013Lemli\u2013Opitz (RSH) syndrome fetuses","volume":"82","author":"Bradley","year":"1999","journal-title":"Am J Med Genet"},{"key":"10.1006\/mgme.2000.3069_RF44","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\u2013Lemli\u2013Opitz 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.2000.3069_RF45","doi-asserted-by":"crossref","first-page":"446","DOI":"10.1016\/S0039-128X(99)00026-4","article-title":"Midgestational maternal urine steroid markers of fetal Smith\u2013Lemli\u2013Opitz (SLO) syndrome (7-dehydrocholesterol 7-reductase deficiency)","volume":"64","author":"Shackleton","year":"1999","journal-title":"Steroids"},{"key":"10.1006\/mgme.2000.3069_RF46","doi-asserted-by":"crossref","first-page":"1157","DOI":"10.1210\/jcem.84.3.5660","article-title":"Equine type estrogens produced by a pregnant woman carrying a Smith\u2013Lemli\u2013Opitz syndrome fetus","volume":"84","author":"Shackleton","year":"1999","journal-title":"J Clin Endocrinol Metab"},{"key":"10.1006\/mgme.2000.3069_RF47","doi-asserted-by":"crossref","first-page":"1443","DOI":"10.1099\/13500872-145-6-1443","article-title":"The erg-3 (sterol delta14,15-reductase) gene of Neurospora crassa: Generation of null mutants by repeat-induced point mutation and complementation by proteins chimeric for human lamin B receptor sequences","volume":"145","author":"Prakash","year":"1999","journal-title":"Microbiology"},{"key":"10.1006\/mgme.2000.3069_RF48","doi-asserted-by":"crossref","first-page":"517","DOI":"10.1002\/(SICI)1096-8628(19990827)85:5<517::AID-AJMG18>3.0.CO;2-1","article-title":"Biochemical variants of Smith\u2013Lemli\u2013Opitz syndrome","volume":"85","author":"Neklason","year":"1999","journal-title":"Am J Med Genet"},{"key":"10.1006\/mgme.2000.3069_RF49","first-page":"403","article-title":"Unexpected molecular findings in 2 previously described brothers with Smith\u2013Lemli\u2013Opitz syndrome","volume":"10","author":"De Die-Smulders","year":"1999","journal-title":"Genet Couns"},{"key":"10.1006\/mgme.2000.3069_RF50","doi-asserted-by":"crossref","first-page":"937","DOI":"10.1038\/sj.ejhg.5200390","article-title":"Smith\u2013Lemli\u2013Opitz syndrome: Evidence of T93M as a common mutation of delta7-sterol reductase in Italy and report of three novel mutations","volume":"7","author":"De Brasi","year":"1999","journal-title":"Eur J Hum Genet"},{"key":"10.1006\/mgme.2000.3069_RF51","doi-asserted-by":"crossref","first-page":"409","DOI":"10.1023\/A:1005616321794","article-title":"Smith\u2013Lemli\u2013Opitz syndrome: Molecular\u2013genetic analysis of ten families","volume":"23","author":"Kozak","year":"2000","journal-title":"J Inherit Metab Dis"},{"key":"10.1006\/mgme.2000.3069_RF52","doi-asserted-by":"crossref","first-page":"138","DOI":"10.1002\/(SICI)1096-8628(20000313)91:2<138::AID-AJMG12>3.0.CO;2-Q","article-title":"Novel 7-DHCR, mutation in a child with Smith\u2013Lemli\u2013Opitz syndrome","volume":"91","author":"Patrono","year":"2000","journal-title":"Am J Med Genet"},{"key":"10.1006\/mgme.2000.3069_RF53","doi-asserted-by":"crossref","first-page":"361","DOI":"10.1089\/gte.1999.3.361","article-title":"A simple PCR-based assay allows detection of a common mutation, IVS8-1G \u2192 C, in DHCR7 in Smith\u2013Lemli\u2013Opitz syndrome","volume":"3","author":"Battaile","year":"1999","journal-title":"Genet Test"},{"key":"10.1006\/mgme.2000.3069_RF54","first-page":"451","article-title":"Action teratog\u00e8ne du Tripranol chez l'animal","volume":"21","author":"Roux","year":"1964","journal-title":"Arch Fran\u00e7 P\u00e9diatr"},{"key":"10.1006\/mgme.2000.3069_RF55","first-page":"1353","article-title":"Action teratog\u00e8ne chez le rat d'un inhibiteur de la synth\u00e8se du cholesterol, le AY9944","volume":"160","author":"Roux","year":"1966","journal-title":"C R Soc Biol"},{"key":"10.1006\/mgme.2000.3069_RF56","doi-asserted-by":"crossref","first-page":"35","DOI":"10.1002\/tera.1420190106","article-title":"Teratogenic action and embryo lethality of AY9944. Prevention by a hypercholesterolemia-provoking diet","volume":"19","author":"Roux","year":"1979","journal-title":"Teratology"},{"key":"10.1006\/mgme.2000.3069_RF57","doi-asserted-by":"crossref","first-page":"2310","DOI":"10.1093\/jn\/110.11.2310","article-title":"Teratogenic effect of an inhibitor of cholesterol synthesis (AY9944) in rats: Correlation with maternal cholesterolemia","volume":"110","author":"Roux","year":"1980","journal-title":"J Nutr"},{"key":"10.1006\/mgme.2000.3069_RF58","doi-asserted-by":"crossref","first-page":"774","DOI":"10.1093\/jn\/118.6.774","article-title":"Cholesterol prevents the teratogenic action of AY9944: Importance of the timing of cholesterol supplementation to rats","volume":"118","author":"Barbu","year":"1988","journal-title":"J Nutr"},{"key":"10.1006\/mgme.2000.3069_RF59","doi-asserted-by":"crossref","first-page":"207","DOI":"10.1002\/(SICI)1096-8628(19991126)87:3<207::AID-AJMG3>3.0.CO;2-5","article-title":"Absence of ventral cell populations in the developing brain in a rat model of the Smith\u2013Lemli\u2013Opitz syndrome","volume":"87","author":"Gofflot","year":"1999","journal-title":"Am J Med Genet"},{"key":"10.1006\/mgme.2000.3069_RF60","doi-asserted-by":"crossref","first-page":"328","DOI":"10.1002\/(SICI)1096-8628(19970131)68:3<328::AID-AJMG15>3.0.CO;2-V","article-title":"Pathogenesis of malformations in a rodent model for Smith\u2013Lemli\u2013Opitz syndrome","volume":"68","author":"Dehart","year":"1997","journal-title":"Am J Med Genet"},{"key":"10.1006\/mgme.2000.3069_RF61","doi-asserted-by":"crossref","first-page":"188","DOI":"10.1002\/(SICI)1096-9926(199709)56:3<188::AID-TERA2>3.0.CO;2-Y","article-title":"Cholesterol biosynthesis inhibited by BM15. 766 induces holoprosencephaly in the rat","volume":"56","author":"Kolf-Clauw","year":"1997","journal-title":"Teratology"},{"key":"10.1006\/mgme.2000.3069_RF62","doi-asserted-by":"crossref","first-page":"24","DOI":"10.1002\/(SICI)1096-8628(19971128)73:1<24::AID-AJMG6>3.0.CO;2-P","article-title":"Limb, genital, CNS, and facial malformations result from gene\/environment-induced cholesterol deficiency: Further evidence for a link to sonic hedgehog","volume":"73","author":"Lanoue","year":"1997","journal-title":"Am J Med Genet"},{"key":"10.1006\/mgme.2000.3069_RF63","doi-asserted-by":"crossref","first-page":"544","DOI":"10.1016\/S0039-128X(96)00088-8","article-title":"Effect of YM 9429, a potent teratogen, on cholesterol biosynthesis in cultured cells and rat liver microsomes","volume":"61","author":"Honda","year":"1996","journal-title":"Steroids"},{"key":"10.1006\/mgme.2000.3069_RF64","doi-asserted-by":"crossref","first-page":"171","DOI":"10.2131\/jts.18.3_171","article-title":"A new potent teratogen in CD rats inducing cleft palate","volume":"18","author":"Shibata","year":"1993","journal-title":"J Toxicol Sci"},{"key":"10.1006\/mgme.2000.3069_RF65","doi-asserted-by":"crossref","first-page":"478","DOI":"10.1002\/(SICI)1096-8628(19961230)66:4<478::AID-AJMG22>3.0.CO;2-Q","article-title":"Holoprosencephaly in RSH\/Smith\u2013Lemli\u2013Opitz syndrome: Does abnormal cholesterol metabolism affect the function of Sonic Hedgehog?","volume":"66","author":"Kelley","year":"1996","journal-title":"Am J Med Genet"},{"key":"10.1006\/mgme.2000.3069_RF66","doi-asserted-by":"crossref","first-page":"8460","DOI":"10.1073\/pnas.93.16.8460","article-title":"Defective forebrain development in mice lacking gp330\/megalin","volume":"93","author":"Willnow","year":"1996","journal-title":"Proc Natl Acad Sci USA"},{"key":"10.1006\/mgme.2000.3069_RF67","doi-asserted-by":"crossref","first-page":"407","DOI":"10.1038\/383407a0","article-title":"Cyclopia and defective axial patterning in mice lacking Sonic hedgehog gene function","volume":"383","author":"Chiang","year":"1996","journal-title":"Nature"},{"key":"10.1006\/mgme.2000.3069_RF68","doi-asserted-by":"crossref","first-page":"203","DOI":"10.1126\/science.274.5285.203","article-title":"Pass the butter\u2026[comment]","volume":"274","author":"Martin","year":"1996","journal-title":"Science"},{"key":"10.1006\/mgme.2000.3069_RF69","doi-asserted-by":"crossref","first-page":"357","DOI":"10.1038\/ng1196-357","article-title":"Mutations in the human Sonic Hedgehog gene cause holoprosencephaly","volume":"14","author":"Roessler","year":"1996","journal-title":"Nat Genet"},{"key":"10.1006\/mgme.2000.3069_RF70","doi-asserted-by":"crossref","first-page":"363","DOI":"10.1038\/374363a0","article-title":"The product of hedgehog autoproteolytic cleavage active in local and long-range signalling","volume":"374","author":"Porter","year":"1995","journal-title":"Nature"},{"key":"10.1006\/mgme.2000.3069_RF71","doi-asserted-by":"crossref","first-page":"21","DOI":"10.1016\/S0092-8674(00)80074-4","article-title":"Hedgehog patterning activity: Role of a lipophilic modification mediated by the carboxy-terminal autoprocessing domain","volume":"86","author":"Porter","year":"1996","journal-title":"Cell"},{"key":"10.1006\/mgme.2000.3069_RF72","doi-asserted-by":"crossref","first-page":"255","DOI":"10.1126\/science.274.5285.255","article-title":"Cholesterol modification of hedgehog signaling proteins in animal development","volume":"274","author":"Porter","year":"1996","journal-title":"Science"},{"key":"10.1006\/mgme.2000.3069_RF73","doi-asserted-by":"crossref","first-page":"1528","DOI":"10.1126\/science.7985023","article-title":"Autoproteolysis in hedgehog protein biogenesis","volume":"266","author":"Lee","year":"1994","journal-title":"Science"},{"key":"10.1006\/mgme.2000.3069_RF74","doi-asserted-by":"crossref","first-page":"1603","DOI":"10.1126\/science.280.5369.1603","article-title":"Teratogen-mediated inhibition of target tissue response to Shh signaling","volume":"280","author":"Cooper","year":"1998","journal-title":"Science"},{"key":"10.1006\/mgme.2000.3069_RF75","doi-asserted-by":"crossref","first-page":"534","DOI":"10.1016\/S0955-0674(97)80030-0","article-title":"Caveolae, DIGs, and the dynamics of sphingolipid\u2013cholesterol microdomains","volume":"9","author":"Harder","year":"1997","journal-title":"Curr Opin Cell Biol"},{"key":"10.1006\/mgme.2000.3069_RF76","doi-asserted-by":"crossref","first-page":"569","DOI":"10.1038\/42408","article-title":"Functional rafts in cell membranes","volume":"387","author":"Simons","year":"1997","journal-title":"Nature"},{"key":"10.1006\/mgme.2000.3069_RF77","doi-asserted-by":"crossref","first-page":"481","DOI":"10.1016\/S0039-128X(99)00022-7","article-title":"Neonatal urinary steroids in Smith\u2013Lemli\u2013Opitz syndrome associated with 7-dehydrocholesterol reductase deficiency","volume":"64","author":"Shackleton","year":"1999","journal-title":"Steroids"},{"key":"10.1006\/mgme.2000.3069_RF78","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1006\/frne.1999.0188","article-title":"Neurosteroids: Biosynthesis and function of these novel neuromodulators","volume":"21","author":"Compagnone","year":"2000","journal-title":"Front Neuroendocrinol"},{"key":"10.1006\/mgme.2000.3069_RF79","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\u2013Lemli\u2013Opitz syndrome (SLOS)","volume":"68","author":"Elias","year":"1997","journal-title":"Am J Med Genet"},{"key":"10.1006\/mgme.2000.3069_RF80","first-page":"A270","article-title":"Cholesterol supplementation with egg yolk decreases plasma 7-dehydrocholesterol in Smith\u2013Lemli\u2013Opitz syndrome","volume":"63","author":"Linck","year":"1998","journal-title":"AJHG"},{"key":"10.1006\/mgme.2000.3069_RF81","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\u2013Lemli\u2013Opitz syndrome: Results of a multicenter trial","volume":"68","author":"Irons","year":"1997","journal-title":"Am J Med Genet"},{"key":"10.1006\/mgme.2000.3069_RF82","doi-asserted-by":"crossref","first-page":"133","DOI":"10.1159\/000020906","article-title":"Antenatal therapy of Smith\u2013Lemli\u2013Opitz syndrome","volume":"14","author":"Irons","year":"1999","journal-title":"Fetal Diagn Ther"},{"key":"10.1006\/mgme.2000.3069_RF83","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.2000.3069_RF84","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.2000.3069_RF85","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\u2013Hunermann\u2013Happle syndrome and sporadic lethal chondrodysplasia punctata","volume":"83","author":"Kelley","year":"1999","journal-title":"Am J Med Genet"},{"key":"10.1006\/mgme.2000.3069_RF86","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\u2013Hunermann syndrome","volume":"22","author":"Braverman","year":"1999","journal-title":"Nat Genet"},{"key":"10.1006\/mgme.2000.3069_RF87","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":"Nat Genet"},{"key":"10.1006\/mgme.2000.3069_RF88","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.2000.3069_RF89","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"}],"container-title":["Molecular Genetics and Metabolism"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1096719200930695?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1096719200930695?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2021,5,3]],"date-time":"2021-05-03T02:07:21Z","timestamp":1620007641000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1096719200930695"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2000,9]]},"references-count":89,"journal-issue":{"issue":"1-2","published-print":{"date-parts":[[2000,9]]}},"alternative-id":["S1096719200930695"],"URL":"https:\/\/doi.org\/10.1006\/mgme.2000.3069","relation":{},"ISSN":["1096-7192"],"issn-type":[{"value":"1096-7192","type":"print"}],"subject":[],"published":{"date-parts":[[2000,9]]}}}