{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,27]],"date-time":"2026-09-27T23:03:46Z","timestamp":1790550226290,"version":"4.1.0"},"reference-count":17,"publisher":"Elsevier BV","issue":"3","license":[{"start":{"date-parts":[[2015,3,1]],"date-time":"2015-03-01T00:00:00Z","timestamp":1425168000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2015,3,1]],"date-time":"2015-03-01T00:00:00Z","timestamp":1425168000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["European Journal of Medical Genetics"],"published-print":{"date-parts":[[2015,3]]},"DOI":"10.1016\/j.ejmg.2014.12.015","type":"journal-article","created":{"date-parts":[[2015,1,14]],"date-time":"2015-01-14T00:46:05Z","timestamp":1421196365000},"page":"148-153","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":36,"title":["Multiple congenital anomalies in two boys with mutation in HCFC1 and cobalamin disorder"],"prefix":"10.1016","volume":"58","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-2319-0305","authenticated-orcid":false,"given":"M.","family":"G\u00e9rard","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G.","family":"Morin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.","family":"Bourillon","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C.","family":"Colson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S.","family":"Mathieu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D.","family":"Rabier","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"T.","family":"Billette de Villemeur","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"H.","family":"Ogier de Baulny","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J.F.","family":"Benoist","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.ejmg.2014.12.015_bib1","doi-asserted-by":"crossref","first-page":"247","DOI":"10.1023\/A:1005521702298","article-title":"Minor facial anomalies in combined methylmalonic aciduria and homocystinuria due to a defect in cobalamin metabolism","volume":"22","author":"Cerone","year":"1999","journal-title":"J.\u00a0Inherit. Metab. Dis."},{"key":"10.1016\/j.ejmg.2014.12.015_bib2","first-page":"129","article-title":"Oral and craniofacial findings in a patient with methylmalonic aciduria and homocystinuria: review and a case report","volume":"59","author":"D'Alessandro","year":"2010","journal-title":"Minerva Stomatol."},{"key":"10.1016\/j.ejmg.2014.12.015_bib3","doi-asserted-by":"crossref","first-page":"30","DOI":"10.1006\/geno.1994.1455","article-title":"Genomic organization of the human VP16 accessory protein, a housekeeping gene (HCFC1) mapping to Xq28","volume":"23","author":"Frattini","year":"1994","journal-title":"Genomics"},{"issue":"6","key":"10.1016\/j.ejmg.2014.12.015_bib4","doi-asserted-by":"crossref","first-page":"372","DOI":"10.1136\/jmg.28.6.372","article-title":"Localization of the MRX3 gene for non-specific X linked mental retardation","volume":"28","author":"Gedeon","year":"1991","journal-title":"J.\u00a0Med. Genet."},{"issue":"4","key":"10.1016\/j.ejmg.2014.12.015_bib5","doi-asserted-by":"crossref","first-page":"694","DOI":"10.1016\/j.ajhg.2012.08.011","article-title":"A\u00a0noncoding, regulatory mutation implicates HCFC1 in nonsyndromic intellectual disability","volume":"91","author":"Huang","year":"2012","journal-title":"Am. J. Hum. Genet."},{"issue":"7","key":"10.1016\/j.ejmg.2014.12.015_bib6","doi-asserted-by":"crossref","first-page":"1072","DOI":"10.1002\/humu.21001","article-title":"Spectrum of mutations in MMACHC, allelic expression, and evidence for genotype-phenotype correlations","volume":"30","author":"Lerner-Ellis","year":"2009","journal-title":"Hum. Mutat."},{"issue":"1","key":"10.1016\/j.ejmg.2014.12.015_bib7","doi-asserted-by":"crossref","first-page":"93","DOI":"10.1038\/ng1683","article-title":"Identification of the gene responsible for methylmalonic aciduria and homocystinuria, cblC type","volume":"38","author":"Lerner-Ellis","year":"2006","journal-title":"Nat. Genet."},{"key":"10.1016\/j.ejmg.2014.12.015_bib8","doi-asserted-by":"crossref","first-page":"11847","DOI":"10.1016\/S0021-9258(19)86394-9","article-title":"Cobalamin coenzyme synthesis in normal and mutant human fibroblasts: evidence for a processing enzyme activity deficient in cblC cells","volume":"254","author":"Mellman","year":"1979","journal-title":"J.\u00a0Biol. Chem."},{"issue":"6","key":"10.1016\/j.ejmg.2014.12.015_bib9","doi-asserted-by":"crossref","first-page":"907","DOI":"10.1101\/gr.150078.112","article-title":"HCFC1 is a common component of active human CpG-island promoters and coincides with ZNF143, THAP11, YY1, and GABP transcription factor occupancy","volume":"23","author":"Michaud","year":"2013","journal-title":"Genome Res."},{"issue":"Suppl.\u00a02","key":"10.1016\/j.ejmg.2014.12.015_bib10","doi-asserted-by":"crossref","first-page":"S77","DOI":"10.1007\/PL00014307","article-title":"Remethylation defects: guidelines for clinical diagnostic and treatment","volume":"157","author":"Ogier de Baulny","year":"1998","journal-title":"Eur. J. Pediatr."},{"key":"10.1016\/j.ejmg.2014.12.015_bib11","doi-asserted-by":"crossref","first-page":"867","DOI":"10.1038\/mp.2010.54","article-title":"Systematic resequencing of X-chromosome synaptic genes in autism spectrum disorders and schizophrenia","volume":"16","author":"Piton","year":"2011","journal-title":"Mol. Psychiatry"},{"issue":"1","key":"10.1016\/j.ejmg.2014.12.015_bib12","doi-asserted-by":"crossref","first-page":"94","DOI":"10.1016\/j.ydbio.2014.09.026","article-title":"Hcfc1b, a zebrafish ortholog of HCFC1, regulates craniofacial development by modulating MMACHC expression","volume":"396","author":"Quintana","year":"2014","journal-title":"Dev. Biol."},{"key":"10.1016\/j.ejmg.2014.12.015_bib13","doi-asserted-by":"crossref","first-page":"528","DOI":"10.1023\/A:1005353530303","article-title":"Clinical heterogeneity and prognosis in combined methylmalonic aciduria and homocystinuria","volume":"20","author":"Rosenblatt","year":"1997","journal-title":"J.\u00a0Inherit. Metab. Dis."},{"key":"10.1016\/j.ejmg.2014.12.015_bib14","series-title":"Inborn metabolic diseases: Diagnosis and treatment","author":"Saudubray","year":"2012"},{"key":"10.1016\/j.ejmg.2014.12.015_bib15","doi-asserted-by":"crossref","first-page":"535","DOI":"10.1038\/ng.367","article-title":"A\u00a0systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation","volume":"41","author":"Tarpey","year":"2009","journal-title":"Nat. Genet."},{"key":"10.1016\/j.ejmg.2014.12.015_bib16","doi-asserted-by":"crossref","first-page":"462","DOI":"10.1016\/0888-7543(95)80046-O","article-title":"The gene encoding the VP16-accessory protein HCF (HCFC1) resides in human Xq28 and is highly expressed in fetal tissues and the adult kidney","volume":"25","author":"Wilson","year":"1995","journal-title":"Genomics"},{"issue":"3","key":"10.1016\/j.ejmg.2014.12.015_bib17","doi-asserted-by":"crossref","first-page":"506","DOI":"10.1016\/j.ajhg.2013.07.022","article-title":"An X-linked cobalamin disorder caused by mutations in transcriptional coregulator HCFC1","volume":"93","author":"Yu","year":"2013","journal-title":"Am. J. Hum. Genet."}],"container-title":["European Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1769721215000038?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1769721215000038?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T03:42:12Z","timestamp":1761709332000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1769721215000038"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015,3]]},"references-count":17,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2015,3]]}},"alternative-id":["S1769721215000038"],"URL":"https:\/\/doi.org\/10.1016\/j.ejmg.2014.12.015","relation":{},"ISSN":["1769-7212"],"issn-type":[{"value":"1769-7212","type":"print"}],"subject":[],"published":{"date-parts":[[2015,3]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Multiple congenital anomalies in two boys with mutation in HCFC1 and cobalamin disorder","name":"articletitle","label":"Article Title"},{"value":"European Journal of Medical Genetics","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ejmg.2014.12.015","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2015 Elsevier Masson SAS. All rights reserved.","name":"copyright","label":"Copyright"}]}}