{"doi":"10.1017/s0003480001008600","title":"Unknown","abstract":null,"journal":null,"year":null,"id":621045,"datarank":0.515098080672772,"base_score":3.4339872044851463,"endowment":3.4339872044851463,"self_citation_contribution":0.515098080672772,"citation_network_contribution":0.0,"self_endowment_contribution":0.515098080672772,"citer_contribution":0.0,"corpus_percentile":null,"corpus_rank":null,"citation_count":30,"citer_count":0,"citers_with_citation_signal":0,"citers_with_endowment":0,"datacite_reuse_total":0,"is_dataset":false,"is_dataset_confidence":null,"is_data_producer":false,"deposit_databanks":null,"is_oa":false,"file_count":0,"downloads":0,"has_version_chain":false,"published_date":null,"fair_score":null,"fair_percentile":null,"algorithm_id":"datarank_citation_only_1hop_v6","ranking_scope":"data_only","authors":[],"reference_count":0,"raw_metadata":{"has_enrichment":true,"resolved":true,"title":"Novel mutations in the 7-dehydrocholesterol reductase gene of 13 patients with Smith--Lemli--Opitz syndrome.","abstract":"Smith--Lemli--Opitz syndrome (SLOS) is caused by mutations in the DHCR7 gene leading to deficient activity of 7-dehydrocholesterol reductase (DHCR7; EC 1.3.1.21), the final enzyme of the cholesterol biosynthetic pathway, resulting in low cholesterol and high concentrations of its direct precursor 7-dehydrocholesterol in plasma and tissues. We here report mutations identified in the DHCR7 gene of 13 children diagnosed with SLOS by clinical and biochemical criteria. We found a high frequency of the previously described IVS8--1 G > C splice acceptor site mutation (two homozygotes, eight compound heterozygotes). In addition, 13 missense mutations and one splice acceptor mutation were detected in eleven patients with a mild to moderate SLOS-phenotype. The mutations include three novel missense mutations (W182L, C183Y, F255L) and one novel splice acceptor site mutation (IVS8--1 G > T). Two patients, homozygous for the IVS8--1 G > C mutation, presented with a severe clinical phenotype and died shortly after birth. Seven patients with a mild to moderate SLOS-phenotype disclosed compound heterozygosity of the IVS8--1 G > C mutation in combination with different novel and known missense mutations.","is_dataset_classified":null,"base_score":3.4339872044851463,"endowment":3.4339872044851463,"datacite_reuse_total":0,"file_count":0,"downloads":0,"views":0,"has_version_chain":false,"is_dataset":false,"is_oa":false,"pmid":"11427181","pmcid":null,"openalex_id":"https://openalex.org/W2162187627","authors":[],"funders":[],"total_grants":0,"fwci":2.142,"citation_percentile":0.88285087,"influential_citations":0,"citation_trend":[{"year":2012,"count":2},{"year":2013,"count":1},{"year":2016,"count":4},{"year":2017,"count":1},{"year":2018,"count":2},{"year":2020,"count":1},{"year":2025,"count":2}],"oa_status":"closed","license":null,"oa_locations":[{"url":"https://pubmed.ncbi.nlm.nih.gov/11427181","host_type":"repository"}],"fields_of_study":["Cholesterol and Lipid Metabolism","Cancer, Lipids, and Metabolism","Lipid metabolism and biosynthesis","Child","Codon, Nonsense","DNA Mutational Analysis","Exons","Female","Frameshift Mutation","Gene Deletion","Genes, Recessive","Genotype","Heterozygote","Humans","Infant","Infant, Newborn","Karyotyping","Male","Mutation","Mutation, Missense","Oxidoreductases","Oxidoreductases Acting on CH-CH Group Donors","Phenotype","RNA Splicing","Smith-Lemli-Opitz Syndrome"],"mesh_terms":["Child","DNA Mutational Analysis","Exons","Female","Genes, Recessive","Genotype","Heterozygote","Humans","Infant","Infant, Newborn","Karyotyping","Male","Mutation","Oxidoreductases","Phenotype","RNA Splicing","Frameshift Mutation","Gene Deletion","Codon, Nonsense","Smith-Lemli-Opitz Syndrome","Mutation, Missense","Oxidoreductases Acting on CH-CH Group Donors"],"keywords":["Smith–Lemli–Opitz syndrome","Missense mutation","Compound heterozygosity","Mutation","Biology","Genetics","Splice site mutation","Phenotype","Reductase","Gene mutation","Loss of heterozygosity","7-Dehydrocholesterol reductase","Gene","Molecular biology","Enzyme","Allele","Biochemistry","Exon","Alternative splicing"],"sdg_mappings":[{"sdg_number":0,"sdg_label":"Good health and well-being"}],"linked_datasets":[],"clinical_trials":[],"software_tools":[],"database_accessions":[],"source":"live","citation_network_status":"fetched"},"created_at":"2026-08-03T13:01:33.256459Z","pmid":null,"pmcid":null,"fwci":null,"citation_percentile":null,"influential_citations":0,"oa_status":null,"license":null,"views":0,"total_file_size_bytes":0,"version_count":0,"fair_f":null,"fair_a":null,"fair_i":null,"fair_r":null,"fair_zscore":null,"fair_rationale":null,"fair_model":null,"fair_agent_version":null,"fair_fulltext_source":null,"fair_has_llm":null,"fair_computed_at":null,"clinical_trials":[],"software_tools":[],"db_accessions":[],"linked_datasets":[],"topics":[]}