{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,2]],"date-time":"2026-05-02T04:11:25Z","timestamp":1777695085853,"version":"3.51.4"},"reference-count":55,"publisher":"Elsevier BV","issue":"12","license":[{"start":{"date-parts":[[2013,12,1]],"date-time":"2013-12-01T00:00:00Z","timestamp":1385856000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2013,12,1]],"date-time":"2013-12-01T00:00:00Z","timestamp":1385856000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"funder":[{"name":"Italian Ricerca Corrente 2011"}],"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":[[2013,12]]},"DOI":"10.1016\/j.ejmg.2013.09.011","type":"journal-article","created":{"date-parts":[[2013,10,3]],"date-time":"2013-10-03T15:16:04Z","timestamp":1380813364000},"page":"648-654","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":27,"title":["Novel MNX1 mutations and clinical analysis of familial and sporadic Currarino cases"],"prefix":"10.1016","volume":"56","author":[{"given":"Elisa","family":"Merello","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Patrizia","family":"De Marco","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marcello","family":"Ravegnani","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Giovanna","family":"Riccipetitoni","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Armando","family":"Cama","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Valeria","family":"Capra","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.ejmg.2013.09.011_bib1","doi-asserted-by":"crossref","first-page":"395","DOI":"10.2214\/ajr.137.2.395","article-title":"Triad of anorectal, sacral, and presacral anomalies","volume":"137","author":"Currarino","year":"1981","journal-title":"AJR Am. J. Roentgenol."},{"key":"10.1016\/j.ejmg.2013.09.011_bib2","doi-asserted-by":"crossref","first-page":"755","DOI":"10.1227\/00006123-199305000-00009","article-title":"Sacral agenesis and caudal spinal cord malformations","volume":"32","author":"Pang","year":"1993","journal-title":"Neurosurgery"},{"issue":"Suppl.\u00a01","key":"10.1016\/j.ejmg.2013.09.011_bib3","first-page":"44","article-title":"Multidisciplinary management of caudal regression syndrome (26 cases)","volume":"6","author":"Cama","year":"1996","journal-title":"Eur. J. Pediatr. Surg."},{"key":"10.1016\/j.ejmg.2013.09.011_bib4","doi-asserted-by":"crossref","first-page":"1305","DOI":"10.1016\/j.jpedsurg.2004.05.003","article-title":"Currarino syndrome: proposal of a diagnostic and therapeutic protocol","volume":"39","author":"Martucciello","year":"2004","journal-title":"J.\u00a0Pediatr. Surg."},{"key":"10.1016\/j.ejmg.2013.09.011_bib5","doi-asserted-by":"crossref","first-page":"599","DOI":"10.1038\/sj.ejhg.5200683","article-title":"Spectrum of mutations and genotype-phenotype analysis in Currarino syndrome","volume":"9","author":"K\u00f6chling","year":"2001","journal-title":"Eur. J. Hum. Genet."},{"key":"10.1016\/j.ejmg.2013.09.011_bib6","doi-asserted-by":"crossref","first-page":"126","DOI":"10.1016\/j.jpedsurg.2005.10.053","article-title":"New clinical and therapeutic perspectives in Currarino syndrome (study of 29 cases)","volume":"41","author":"Cr\u00e9tolle","year":"2006","journal-title":"J.\u00a0Pediatr. Surg."},{"key":"10.1016\/j.ejmg.2013.09.011_bib7","doi-asserted-by":"crossref","first-page":"903","DOI":"10.1002\/humu.20718","article-title":"Spectrum of HLXB9 gene mutations in Currarino syndrome and genotype-phenotype correlation","volume":"29","author":"Cr\u00e9tolle","year":"2008","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.ejmg.2013.09.011_bib8","doi-asserted-by":"crossref","first-page":"1892","DOI":"10.1016\/j.jpedsurg.2009.03.039","article-title":"MNX1 (HLXB9) mutations in Currarino patients","volume":"44","author":"Garcia-Barcel\u00f3","year":"2009","journal-title":"J.\u00a0Pediatr. Surg."},{"key":"10.1016\/j.ejmg.2013.09.011_bib9","doi-asserted-by":"crossref","first-page":"1390","DOI":"10.1016\/j.jpedsurg.2011.02.039","article-title":"Mutation analysis of the motor neuron and pancreas homeobox 1 (MNX1, former HLXB9) gene in Swedish patients with Currarino syndrome","volume":"46","author":"Zu","year":"2011","journal-title":"J.\u00a0Pediatr. Surg."},{"issue":"2","key":"10.1016\/j.ejmg.2013.09.011_bib10","doi-asserted-by":"crossref","first-page":"33","DOI":"10.1186\/1750-1172-2-33","article-title":"Anorectal malformations","volume":"26","author":"Levitt","year":"2007","journal-title":"Orphanet J. Rare Dis."},{"key":"10.1016\/j.ejmg.2013.09.011_bib11","doi-asserted-by":"crossref","first-page":"102","DOI":"10.1002\/bjs.1800770135","article-title":"Triad of anorectal stenosis, sacral anomaly and presacral mass: a remediable cause of severe constipation","volume":"77","author":"Heij","year":"1990","journal-title":"Br. J. Surg."},{"key":"10.1016\/j.ejmg.2013.09.011_bib12","doi-asserted-by":"crossref","first-page":"930","DOI":"10.1111\/j.1463-1318.2010.02312.x","article-title":"Presacral masses in children: presentation, aetiology and risk of malignancy","volume":"13","author":"Bartels","year":"2011","journal-title":"Colorectal Dis."},{"key":"10.1016\/j.ejmg.2013.09.011_bib13","doi-asserted-by":"crossref","first-page":"114","DOI":"10.1055\/s-2008-1066487","article-title":"The Currarino syndrome-hereditary transmitted syndrome of anorectal, sacral, and pre sacral anomalies. Case report and review of the literature","volume":"6","author":"Kochling","year":"1996","journal-title":"Eur. J. Pediatr. Surg."},{"key":"10.1016\/j.ejmg.2013.09.011_bib14","doi-asserted-by":"crossref","first-page":"58","DOI":"10.1016\/S0022-3468(97)90094-4","article-title":"Currarino triad: anorectal malformation, sacral bony abnormality, and pre sacral mass\u2014a review of 11 cases","volume":"32","author":"Lee","year":"1997","journal-title":"J.\u00a0Pediatr. Surg."},{"key":"10.1016\/j.ejmg.2013.09.011_bib15","doi-asserted-by":"crossref","first-page":"312","DOI":"10.1086\/302723","article-title":"Involvement of the HLXB9 homeobox gene in Currarino syndrome","volume":"66","author":"Belloni","year":"2000","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ejmg.2013.09.011_bib16","doi-asserted-by":"crossref","first-page":"961","DOI":"10.1542\/peds.109.5.961","article-title":"Is it more than just constipation?","volume":"109","author":"Gereige","year":"2002","journal-title":"Pediatrics"},{"issue":"3","key":"10.1016\/j.ejmg.2013.09.011_bib17","doi-asserted-by":"crossref","first-page":"E597","DOI":"10.1227\/01.NEU.0000171836.67266.75","article-title":"Pre sacral meningocele associated with hereditary sacral agenesis and treated surgically: evaluation in three members of the same family","volume":"57","author":"Marin-Sanabria","year":"2005","journal-title":"Neurosurgery"},{"issue":"3","key":"10.1016\/j.ejmg.2013.09.011_bib18","doi-asserted-by":"crossref","first-page":"299","DOI":"10.1002\/ajmg.a.30028","article-title":"Malignant degeneration of presacral teratoma in the Currarino anomaly","volume":"128A","author":"Urioste","year":"2004","journal-title":"Am. J. Med. Genet. A"},{"issue":"11","key":"10.1016\/j.ejmg.2013.09.011_bib19","doi-asserted-by":"crossref","first-page":"1383","DOI":"10.1007\/s00384-010-0953-2","article-title":"Rare malignant neuroendocrine transformation of a presacral teratoma in patient with Currarino syndrome","volume":"25","author":"Pendlimari","year":"2010","journal-title":"Int. J. Colorectal Dis."},{"issue":"11","key":"10.1016\/j.ejmg.2013.09.011_bib20","doi-asserted-by":"crossref","first-page":"2750","DOI":"10.1002\/ajmg.a.34031","article-title":"Currarino syndrome with pelvic neuroendocrine tumor diagnosed by post-mortem genetic analysis of tissue specimens","volume":"155A","author":"Ciotti","year":"2011","journal-title":"Am. J. Med. Genet. A"},{"issue":"2","key":"10.1016\/j.ejmg.2013.09.011_bib21","doi-asserted-by":"crossref","first-page":"239","DOI":"10.1016\/S0022-3476(83)80528-9","article-title":"Anterior sacral defects: an autosomal dominantly inherited condition","volume":"102","author":"Yates","year":"1983","journal-title":"J.\u00a0Pediatr."},{"issue":"5","key":"10.1016\/j.ejmg.2013.09.011_bib22","first-page":"659","article-title":"Epidermoid cyst inside anterior sacral meningocele in an adult patient of Currarino syndrome manifesting with meningitis","volume":"22","author":"Kansal","year":"2012","journal-title":"Turk Neurosurg."},{"key":"10.1016\/j.ejmg.2013.09.011_bib23","doi-asserted-by":"crossref","first-page":"1790","DOI":"10.1053\/jpsu.2000.19258","article-title":"Currarino triad\u2014Diagnostic dilemma and a combined surgical approach","volume":"35","author":"Samuel","year":"2000","journal-title":"J.\u00a0Pediatr. Surg."},{"key":"10.1016\/j.ejmg.2013.09.011_bib24","doi-asserted-by":"crossref","first-page":"46","DOI":"10.1373\/clinchem.2005.056192","article-title":"Population differences in the polyalanine domain and 6 new mutations in HLXB9 in patients with Currarino syndrome","volume":"52","author":"Garcia-Barcel\u00f3","year":"2006","journal-title":"Clin. Chem."},{"key":"10.1016\/j.ejmg.2013.09.011_bib25","doi-asserted-by":"crossref","first-page":"561","DOI":"10.1136\/jmg.37.8.561","article-title":"Autosomal dominant sacral agenesis: Currarino syndrome","volume":"37","author":"Lynch","year":"2000","journal-title":"J.\u00a0Med. Genet."},{"key":"10.1016\/j.ejmg.2013.09.011_bib26","doi-asserted-by":"crossref","first-page":"1504","DOI":"10.1086\/302899","article-title":"Mutation analysis and embryonic expression of the HLXB9 Currarino syndrome gene","volume":"66","author":"Hagan","year":"2000","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ejmg.2013.09.011_bib27","doi-asserted-by":"crossref","first-page":"1238","DOI":"10.1016\/j.jpedsurg.2005.05.004","article-title":"The Currarino triad: the variable expression","volume":"40","author":"Emans","year":"2005","journal-title":"J.\u00a0Pediatr. Surg."},{"key":"10.1016\/j.ejmg.2013.09.011_bib28","doi-asserted-by":"crossref","first-page":"93","DOI":"10.1038\/ng0995-93","article-title":"A\u00a0gene for autosomal dominant sacral agenesis maps to the holoprosencephaly region at 7q36","volume":"11","author":"Lynch","year":"1995","journal-title":"Nat. Genet."},{"key":"10.1016\/j.ejmg.2013.09.011_bib29","doi-asserted-by":"crossref","first-page":"358","DOI":"10.1038\/3828","article-title":"A\u00a0homeobox gene, HLXB9, is the major locus for dominantly inherited sacral agenesis","volume":"20","author":"Ross","year":"1998","journal-title":"Nat. Genet."},{"key":"10.1016\/j.ejmg.2013.09.011_bib30","doi-asserted-by":"crossref","first-page":"1923","DOI":"10.1002\/ajmg.a.31420","article-title":"A\u00a0previously unreported mutation in a Currarino syndrome kindred","volume":"140","author":"Wang","year":"2006","journal-title":"Am. J. Med. Genet. A"},{"key":"10.1016\/j.ejmg.2013.09.011_bib31","doi-asserted-by":"crossref","first-page":"698","DOI":"10.1007\/s10038-007-0173-y","article-title":"Clinical and genetic analysis of HLXB9 gene in Korean patients with Currarino syndrome","volume":"52","author":"Kim","year":"2007","journal-title":"J.\u00a0Hum. Genet."},{"issue":"8","key":"10.1016\/j.ejmg.2013.09.011_bib32","doi-asserted-by":"crossref","first-page":"575","DOI":"10.1038\/nmeth0810-575","article-title":"Mutation taster evaluates disease-causing potential of sequence alterations","volume":"7","author":"Schwarz","year":"2010","journal-title":"Nat. Methods"},{"issue":"2","key":"10.1016\/j.ejmg.2013.09.011_bib33","doi-asserted-by":"crossref","first-page":"89","DOI":"10.1038\/nrm1310","article-title":"Nonsense-mediated mRNA decay: splicing, translation and mRNP dynamics","volume":"5","author":"Maquat","year":"2004","journal-title":"Nat. Rev. Mol. Cell Biol."},{"key":"10.1016\/j.ejmg.2013.09.011_bib34","doi-asserted-by":"crossref","first-page":"1081","DOI":"10.1016\/0092-8674(88)90123-7","article-title":"The sequence specificity of homeodomain-DNA interaction","volume":"23","author":"Desplan","year":"1988","journal-title":"Cell"},{"key":"10.1016\/j.ejmg.2013.09.011_bib35","doi-asserted-by":"crossref","first-page":"211","DOI":"10.1016\/0092-8674(94)90292-5","article-title":"Homeodomain-DNA recognition","volume":"78","author":"Gehring","year":"1994","journal-title":"Cell"},{"key":"10.1016\/j.ejmg.2013.09.011_bib36","doi-asserted-by":"crossref","first-page":"237","DOI":"10.1007\/s00418-004-0698-5","article-title":"Localization of HB9 homeodomain protein and characterization of its nuclear localization signal during chick embryonic skin development","volume":"122","author":"Kosaka","year":"2004","journal-title":"Histochem. Cell Biol."},{"issue":"9","key":"10.1016\/j.ejmg.2013.09.011_bib37","doi-asserted-by":"crossref","first-page":"e67","DOI":"10.1093\/nar\/gkp215","article-title":"Human splicing finder: an online bioinformatics tool to predict splicing signals","volume":"37","author":"Desmet","year":"2009","journal-title":"Nucleic Acid Res."},{"key":"10.1016\/j.ejmg.2013.09.011_bib38","doi-asserted-by":"crossref","first-page":"85","DOI":"10.1002\/ajmg.a.30031","article-title":"Minimal clinical expression of the holoprosencephaly spectrum and of Currarino syndrome due to different cytogenetic rearrangements deleting the Sonic Hedgehog gene and the HLXB9 gene at 7q36.3","volume":"128A","author":"Horn","year":"2004","journal-title":"Am. J. Med. Genet. A"},{"key":"10.1016\/j.ejmg.2013.09.011_bib39","doi-asserted-by":"crossref","first-page":"243","DOI":"10.1055\/s-0031-1284421","article-title":"A\u00a0novel HLXB9 mutation in a Chinese family with Currarino Syndrome","volume":"22","author":"Wang","year":"2012","journal-title":"Eur. J. Pediatr. Surg."},{"key":"10.1016\/j.ejmg.2013.09.011_bib40","doi-asserted-by":"crossref","first-page":"50","DOI":"10.1016\/j.gene.2012.06.096","article-title":"Novel mutations in the MNX1 gene in two families with Currarino syndrome and variable phenotype","volume":"507","author":"Markljung","year":"2012","journal-title":"Gene"},{"key":"10.1016\/j.ejmg.2013.09.011_bib41","doi-asserted-by":"crossref","first-page":"165","DOI":"10.1038\/35056009","article-title":"Modifier genes in mice and humans","volume":"2","author":"Nadeau","year":"2001","journal-title":"Nat. Rev. Genet."},{"key":"10.1016\/j.ejmg.2013.09.011_bib42","doi-asserted-by":"crossref","DOI":"10.1093\/hmg\/ddg099","article-title":"Genetic modifiers in human development and malformation syndromes, including chaperone proteins","volume":"12","author":"Slavotinek","year":"2003","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.ejmg.2013.09.011_bib43","doi-asserted-by":"crossref","first-page":"400","DOI":"10.1177\/0022034509335868","article-title":"Epigenetics: connecting environment and genotype to phenotype and disease","volume":"88","author":"Barros","year":"2009","journal-title":"J.\u00a0Dent Res."},{"key":"10.1016\/j.ejmg.2013.09.011_bib44","doi-asserted-by":"crossref","first-page":"672","DOI":"10.1542\/peds.37.4.672","article-title":"Syndrome of caudal regression in infants of diabetic mothers: observation of further cases","volume":"37","author":"Passarge","year":"1966","journal-title":"Pediatrics"},{"issue":"3","key":"10.1016\/j.ejmg.2013.09.011_bib45","doi-asserted-by":"crossref","first-page":"205","DOI":"10.1002\/bdra.20234","article-title":"HLXB9 homeobox gene and caudal regression syndrome","volume":"76","author":"Merello","year":"2006","journal-title":"Birth Defects Res. A Clin. Mol. Teratol."},{"key":"10.1016\/j.ejmg.2013.09.011_bib46","unstructured":"HGVS (http:\/\/www.hgvs.org\/mutnomen)."},{"key":"10.1016\/j.ejmg.2013.09.011_bib47","unstructured":"dbSNP build 133 (http:\/\/www.ncbi.nlm.nih.gov\/projects\/SNP\/)."},{"key":"10.1016\/j.ejmg.2013.09.011_bib48","unstructured":"1000 Genome project (http:\/\/browser.1000genomes.org\/index.html)."},{"key":"10.1016\/j.ejmg.2013.09.011_bib49","unstructured":"EVS (http:\/\/evs.gs.washington.edu\/EVS\/)."},{"key":"10.1016\/j.ejmg.2013.09.011_bib50","unstructured":"HGMD database (http:\/\/www.hgmd.cf.ac.uk)."},{"key":"10.1016\/j.ejmg.2013.09.011_bib51","unstructured":"PolyPhen2 (polymorphism phenotyping v2. http:\/\/genetics.bwh.harvard.edu\/pph2\/index.shtml)."},{"key":"10.1016\/j.ejmg.2013.09.011_bib52","unstructured":"SIFT (sorting intolerant from tolerant; http:\/\/sift.bii.a-star.edu.sg\/)."},{"key":"10.1016\/j.ejmg.2013.09.011_bib53","unstructured":"Mutation taster (http:\/\/www.mutationtaster.org\/)."},{"key":"10.1016\/j.ejmg.2013.09.011_bib54","unstructured":"Human splicing finder v2.4.1 (http:\/\/www.umd.be\/HSF\/)."},{"key":"10.1016\/j.ejmg.2013.09.011_bib55","unstructured":"Uniprot (http:\/\/www.uniprot.org\/)."}],"container-title":["European Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1769721213002103?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1769721213002103?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T03:40:56Z","timestamp":1761709256000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1769721213002103"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,12]]},"references-count":55,"journal-issue":{"issue":"12","published-print":{"date-parts":[[2013,12]]}},"alternative-id":["S1769721213002103"],"URL":"https:\/\/doi.org\/10.1016\/j.ejmg.2013.09.011","relation":{},"ISSN":["1769-7212"],"issn-type":[{"value":"1769-7212","type":"print"}],"subject":[],"published":{"date-parts":[[2013,12]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Novel MNX1 mutations and clinical analysis of familial and sporadic Currarino cases","name":"articletitle","label":"Article Title"},{"value":"European Journal of Medical Genetics","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ejmg.2013.09.011","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2013 Elsevier Masson SAS. All rights reserved.","name":"copyright","label":"Copyright"}]}}