{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T06:12:41Z","timestamp":1761718361740},"reference-count":15,"publisher":"Springer Science and Business Media LLC","issue":"12","license":[{"start":{"date-parts":[[2014,11,25]],"date-time":"2014-11-25T00:00:00Z","timestamp":1416873600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.springer.com\/tdm"},{"start":{"date-parts":[[2014,11,25]],"date-time":"2014-11-25T00:00:00Z","timestamp":1416873600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["J Perinatol"],"published-print":{"date-parts":[[2014,12]]},"DOI":"10.1038\/jp.2014.162","type":"journal-article","created":{"date-parts":[[2014,11,25]],"date-time":"2014-11-25T06:30:18Z","timestamp":1416897018000},"page":"948-950","update-policy":"http:\/\/dx.doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["Clinical and genetic complexity of Mitchell\u2013Riley\/Martinez\u2013Frias syndrome"],"prefix":"10.1038","volume":"34","author":[{"given":"L","family":"Cruz","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R E","family":"Schnur","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"E M","family":"Post","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"H","family":"Bodagala","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R","family":"Ahmed","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C","family":"Smith","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"L B","family":"Lulis","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"G E","family":"Stahl","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A","family":"Kushnir","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2014,11,25]]},"reference":[{"key":"BFjp2014162_CR1","doi-asserted-by":"publisher","first-page":"352","DOI":"10.1002\/ajmg.1320440316","volume":"44","author":"ML Martinez-Frias","year":"1992","unstructured":"Martinez-Frias ML, Frias JL, Galan E, Domingo R, Paisan L, Blanco M . Tracheoesophageal fistula, gastrointestinal abnormalities, hypospadias, and prenatal growth deficiency. Am J Med Genet 1992; 44: 352\u2013355.","journal-title":"Am J Med Genet"},{"key":"BFjp2014162_CR2","doi-asserted-by":"publisher","first-page":"306","DOI":"10.1002\/(SICI)1096-8628(19980707)78:3<306::AID-AJMG22>3.0.CO;2-I","volume":"78","author":"G Anneren","year":"1998","unstructured":"Anneren G, Meurling S, Lilja H, Wallander J, von Dobeln U . Lethal autosomal recessive syndrome with intrauterine growth retardation, intra- and extrahepatic biliary atresia, and esophageal and duodenal atresia. Am J Med Genet 1998; 78: 306\u2013307.","journal-title":"Am J Med Genet"},{"key":"BFjp2014162_CR3","doi-asserted-by":"publisher","first-page":"2160","DOI":"10.1007\/s00125-004-1576-3","volume":"47","author":"J Mitchell","year":"2004","unstructured":"Mitchell J, Punthakee Z, Lo B, Bernard C, Chong K, Newman C et al. Neonatal diabetes, with hypoplastic pancreas, intestinal atresia and gall bladder hypoplasia: search for the aetiology of a new autosomal recessive syndrome. Diabetologia 2004; 47: 2160\u20132167.","journal-title":"Diabetologia"},{"key":"BFjp2014162_CR4","first-page":"1095","volume":"18","author":"GS Jeha","year":"2005","unstructured":"Jeha GS, Venkatesh MP, Edelen RC, Kienstra KA, Karaviti L, Fernandes CJ . Neonatal diabetes mellitus: patient reports and review of current knowledge and clinical practice. J Pediatr Endocrinol Metab. 2005; 18: 1095\u20131102.","journal-title":"J Pediatr Endocrinol Metab."},{"key":"BFjp2014162_CR5","doi-asserted-by":"publisher","first-page":"1713","DOI":"10.1002\/ajmg.a.32304","volume":"146A","author":"L Chappell","year":"2008","unstructured":"Chappell L, Gorman S, Campbell F, Ellard S, Rice G, Dobbie A et al. A further example of a distinctive autosomal recessive syndrome comprising neonatal diabetes mellitus, intestinal atresias and gall bladder agenesis. Am J Med Genet A 2008; 146A: 1713\u20131717.","journal-title":"Am J Med Genet A"},{"key":"BFjp2014162_CR6","doi-asserted-by":"publisher","first-page":"25","DOI":"10.1016\/j.ejmg.2009.10.004","volume":"53","author":"D Martinovici","year":"2010","unstructured":"Martinovici D, Ransy V, Vanden Eijnden S, Ridremont C, Pardou A, Cassart M et al. Neonatal hemochromatosis and Martinez-Frias syndrome of intestinal atresia and diabetes mellitus in a consanguineous newborn. Eur J Med Genet 2010; 53: 25\u201328.","journal-title":"Eur J Med Genet"},{"key":"BFjp2014162_CR7","first-page":"291","volume":"16","author":"JV Barone","year":"2011","unstructured":"Barone JV, Tillman EM, Ferry RJ Jr . Treatment of transient neonatal diabetes mellitus with subcutaneous insulin glargine in an extremely low birth weight neonate. J Pediatr Pharmacol Ther 2011; 16: 291\u2013297.","journal-title":"J Pediatr Pharmacol Ther"},{"key":"BFjp2014162_CR8","unstructured":"Online Mendelian Inheritance in Man O. 2010: MIM Number 601346."},{"key":"BFjp2014162_CR9","doi-asserted-by":"publisher","first-page":"67","DOI":"10.1111\/pedi.12063","volume":"15","author":"JP Concepcion","year":"2014","unstructured":"Concepcion JP, Reh CS, Daniels M, Liu X, Paz VP, Ye H et al. Neonatal diabetes, gallbladder agenesis, duodenal atresia, and intestinal malrotation caused by a novel homozygous mutation in RFX6. Pediatr Diabetes 2014; 15: 67\u201372.","journal-title":"Pediatr Diabetes"},{"key":"BFjp2014162_CR10","doi-asserted-by":"publisher","first-page":"243","DOI":"10.1055\/s-2007-985069","volume":"3","author":"PF Whitington","year":"2007","unstructured":"Whitington PF . Neonatal hemochromatosis: a congenital alloimmune hepatitis. Semen Liver Dis 2007; 3: 243\u2013250.","journal-title":"Semen Liver Dis"},{"key":"BFjp2014162_CR11","doi-asserted-by":"publisher","first-page":"2821","DOI":"10.1002\/ajmg.a.34251","volume":"155A","author":"R Spiegel","year":"2011","unstructured":"Spiegel R, Dobbie A, Hartman C, de Vries L, Ellard S, Shalev SA . Clinical characterization of a newly described neonatal diabetes syndrome caused by RFX6 mutations. Am J Med Genet A 2011; 155A: 2821\u20132825.","journal-title":"Am J Med Genet A"},{"key":"BFjp2014162_CR12","doi-asserted-by":"publisher","first-page":"226","DOI":"10.1186\/1471-2148-8-226","volume":"8","author":"S Aftab","year":"2008","unstructured":"Aftab S, Semenec L, Chu JS, Chen N . Identification and characterization of novel human tissue-specific RFX transcription factors. BMC Evol Biol. 2008; 8: 226.","journal-title":"BMC Evol Biol."},{"key":"BFjp2014162_CR13","unstructured":"Online Mendelian Inheritance in Man O. 2010: MIM number 612659."},{"key":"BFjp2014162_CR14","doi-asserted-by":"publisher","first-page":"775","DOI":"10.1038\/nature08748","volume":"463","author":"SB Smith","year":"2010","unstructured":"Smith SB, Qu HQ, Taleb N, Kishimoto NY, Scheel DW, Lu Y et al. Rfx6 directs islet formation and insulin production in mice and humans. Nature 2010; 463: 775\u2013780.","journal-title":"Nature"},{"key":"BFjp2014162_CR15","doi-asserted-by":"publisher","first-page":"82","DOI":"10.1002\/(SICI)1096-8628(19991105)87:1<82::AID-AJMG17>3.0.CO;2-0","volume":"87","author":"M Gentile","year":"1999","unstructured":"Gentile M, Fiorente P . Esophageal, duodenal, rectoanal and biliary atresia, intestinal malrotation, malformed\/hypoplastic pancreas, and hypospadias: further evidence of a new distinct syndrome. Am J Med Genet 1999; 87: 82\u201383.","journal-title":"Am J Med Genet"}],"container-title":["Journal of Perinatology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.nature.com\/articles\/jp2014162.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.nature.com\/articles\/jp2014162","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.nature.com\/articles\/jp2014162.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,3,18]],"date-time":"2022-03-18T15:01:13Z","timestamp":1647615673000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.nature.com\/articles\/jp2014162"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,11,25]]},"references-count":15,"journal-issue":{"issue":"12","published-print":{"date-parts":[[2014,12]]}},"alternative-id":["BFjp2014162"],"URL":"https:\/\/doi.org\/10.1038\/jp.2014.162","relation":{},"ISSN":["0743-8346","1476-5543"],"issn-type":[{"value":"0743-8346","type":"print"},{"value":"1476-5543","type":"electronic"}],"subject":[],"published":{"date-parts":[[2014,11,25]]},"assertion":[{"value":"19 March 2014","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"15 July 2014","order":2,"name":"revised","label":"Revised","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"28 July 2014","order":3,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"25 November 2014","order":4,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"The authors declare no conflict of interest.","order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}]}}