{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,23]],"date-time":"2026-10-23T06:55:33Z","timestamp":1792738533201,"version":"4.5.0"},"reference-count":255,"publisher":"BMJ","issue":"1","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[2008,1]]},"abstract":"<jats:p>Hirschsprung disease (HSCR, aganglionic megacolon) represents the main genetic cause of functional intestinal obstruction with an incidence of 1\/5000 live births. This developmental disorder is a neurocristopathy and is characterised by the absence of the enteric ganglia along a variable length of the intestine. In the last decades, the development of surgical approaches has importantly decreased mortality and morbidity which allowed the emergence of familial cases. Isolated HSCR appears to be a non-Mendelian malformation with low, sex-dependent penetrance, and variable expression according to the length of the aganglionic segment. While all Mendelian modes of inheritance have been described in syndromic HSCR, isolated HSCR stands as a model for genetic disorders with complex patterns of inheritance. The tyrosine kinase receptor <jats:italic>RET<\/jats:italic> is the major gene with both rare coding sequence mutations and\/or a frequent variant located in an enhancer element predisposing to the disease. Hitherto, 10 genes and five loci have been found to be involved in HSCR development.<\/jats:p>","DOI":"10.1136\/jmg.2007.053959","type":"journal-article","created":{"date-parts":[[2007,10,26]],"date-time":"2007-10-26T19:32:09Z","timestamp":1193427129000},"page":"1-14","source":"Crossref","is-referenced-by-count":801,"title":["Hirschsprung disease, associated syndromes and genetics: a review"],"prefix":"10.1136","volume":"45","author":[{"given":"J","family":"Amiel","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"E","family":"Sproat-Emison","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M","family":"Garcia-Barcelo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"F","family":"Lantieri","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G","family":"Burzynski","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S","family":"Borrego","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A","family":"Pelet","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S","family":"Arnold","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"X","family":"Miao","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"P","family":"Griseri","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A S","family":"Brooks","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G","family":"Antinolo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L","family":"de Pontual","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M","family":"Clement-Ziza","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A","family":"Munnich","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C","family":"Kashuk","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"K","family":"West","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"K K-Y","family":"Wong","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S","family":"Lyonnet","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A","family":"Chakravarti","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"P K-H","family":"Tam","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"I","family":"Ceccherini","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R M W","family":"Hofstra","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R","family":"Fernandez","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"name":"for the Hirschsprung Disease Consortium","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[2007,10,26]]},"reference":[{"key":"2025101712383743000_45.1.1.1","first-page":"1","article-title":"Stuhltr\u00e4gheit neugeborener infolge von dilatation und hypertrophic des colons.","volume":"27","author":"Hirschsprung","year":"1888","journal-title":"Jb inderheilk"},{"key":"2025101712383743000_45.1.1.2","doi-asserted-by":"publisher","DOI":"10.1001\/archinte.1948.00220250085005"},{"key":"2025101712383743000_45.1.1.3","doi-asserted-by":"publisher","DOI":"10.1016\/0022-3468(72)90394-6"},{"key":"2025101712383743000_45.1.1.4","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3468(96)90074-3"},{"key":"2025101712383743000_45.1.1.5","doi-asserted-by":"crossref","first-page":"261","DOI":"10.1111\/j.1469-1809.1963.tb01983.x","article-title":"A family study of Hirschsprung disease.","volume":"26","author":"Bodian","year":"1963","journal-title":"Ann Hum Genet"},{"key":"2025101712383743000_45.1.1.6","doi-asserted-by":"publisher","DOI":"10.1016\/S0046-8177(74)80021-3"},{"key":"2025101712383743000_45.1.1.7","doi-asserted-by":"crossref","unstructured":"Le Douarin N Kalcheim C . The neural crest. 2nd ed. Cambridge: Cambridge University Press, 1999.","DOI":"10.1017\/CBO9780511897948"},{"key":"2025101712383743000_45.1.1.8","doi-asserted-by":"publisher","DOI":"10.1126\/science.1085649"},{"key":"2025101712383743000_45.1.1.9","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320350119"},{"key":"2025101712383743000_45.1.1.10","doi-asserted-by":"crossref","first-page":"138","DOI":"10.1056\/NEJM196701192760303","article-title":"The genetics of Hirschsprung\u2019s disease. Evidence for heterogeneous etiology and a study of sixty-three families.","volume":"276","author":"Passarge","year":"1967","journal-title":"N Engl J Med"},{"key":"2025101712383743000_45.1.1.11","doi-asserted-by":"publisher","DOI":"10.1093\/ije\/13.4.479"},{"key":"2025101712383743000_45.1.1.12","doi-asserted-by":"crossref","first-page":"503","DOI":"10.1111\/j.1399-0004.1985.tb00417.x","article-title":"Hirschsprung disease: a genetic study.","volume":"28","author":"Garver","year":"1985","journal-title":"Clin Genet"},{"key":"2025101712383743000_45.1.1.13","doi-asserted-by":"publisher","DOI":"10.1002\/tera.1420320204"},{"key":"2025101712383743000_45.1.1.14","unstructured":"Brooks AS Breuning MH Meijers C . Spectrum of phenotypes associated with Hirschsprung disease: an evaluation of 239 patients from a single institution. The Third International Meeting: Hirschsprung disease and related neurocristopathies. Evian, France, 1998."},{"key":"2025101712383743000_45.1.1.15","unstructured":"Torfs CP . An epidemiological study of Hirschsprung disease in a multiracial California population. The Third International Meetings: Hirschsprung disease and related neurocristopathies. Evian, France, 1998."},{"key":"2025101712383743000_45.1.1.16","doi-asserted-by":"publisher","DOI":"10.1016\/S0959-437X(99)80048-3"},{"key":"2025101712383743000_45.1.1.17","doi-asserted-by":"crossref","first-page":"251","DOI":"10.1016\/S0022-3468(86)80847-8","article-title":"Total colonic aganglionosis (with or without ileal involvement): a review of 27 cases.","volume":"21","author":"Nihoul-F\u00e9k\u00e9t\u00e9","year":"1986","journal-title":"J Pediatr Surg"},{"key":"2025101712383743000_45.1.1.18","doi-asserted-by":"publisher","DOI":"10.1016\/0022-3468(90)90748-X"},{"key":"2025101712383743000_45.1.1.19","first-page":"133","article-title":"[Megacolon in adults. Apropos of 76 cases].","volume":"20","author":"Parc","year":"1984","journal-title":"Ann Gastroenterol Hepatol (Paris)"},{"key":"2025101712383743000_45.1.1.20","doi-asserted-by":"crossref","first-page":"101","DOI":"10.1055\/s-2008-1072221","article-title":"Anorectal manometry during the neonatal period: its specificity in the diagnosis of Hirschsprung\u2019s disease.","volume":"9","author":"Emir","year":"1999","journal-title":"Eur J Pediatr Surg"},{"key":"2025101712383743000_45.1.1.21","first-page":"66","article-title":"[Manometric study in the newborn].","volume":"5","author":"Lopez Alonso","year":"1992","journal-title":"Cir Pediatr"},{"key":"2025101712383743000_45.1.1.22","doi-asserted-by":"publisher","DOI":"10.1136\/adc.61.1.83"},{"key":"2025101712383743000_45.1.1.23","doi-asserted-by":"crossref","first-page":"1023","DOI":"10.1002\/bjs.1800531204","article-title":"Hirschsprung\u2019s disease. Technique and results of Soave\u2019s operation.","volume":"53","author":"Soave","year":"1966","journal-title":"Br J Surg"},{"key":"2025101712383743000_45.1.1.24","first-page":"61","article-title":"Hirschsprung\u2019s disease\u2013the Duhamel modification.","volume":"47","author":"Newbern","year":"1967","journal-title":"Am J Gastroenterol"},{"key":"2025101712383743000_45.1.1.25","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3468(99)90480-3"},{"key":"2025101712383743000_45.1.1.26","doi-asserted-by":"crossref","first-page":"569","DOI":"10.1097\/01.sla.0000089854.00436.cd","article-title":"One-stage transanal Soave pullthrough for Hirschsprung disease: a multicenter experience with 141 children.","volume":"238","author":"Langer","year":"2003","journal-title":"Ann Surg"},{"key":"2025101712383743000_45.1.1.27","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpedsurg.2006.09.007"},{"key":"2025101712383743000_45.1.1.28","doi-asserted-by":"publisher","DOI":"10.1007\/s00384-005-0051-z"},{"key":"2025101712383743000_45.1.1.29","doi-asserted-by":"publisher","DOI":"10.1038\/nrn2137"},{"key":"2025101712383743000_45.1.1.30","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3468(98)90652-2"},{"key":"2025101712383743000_45.1.1.31","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3468(99)90588-2"},{"key":"2025101712383743000_45.1.1.32","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3468(96)90164-5"},{"key":"2025101712383743000_45.1.1.33","doi-asserted-by":"crossref","first-page":"174","DOI":"10.1016\/S1055-8586(98)70014-9","article-title":"Total colonic aganglionosis.","volume":"7","author":"Jasonni","year":"1998","journal-title":"Semin Pediatr Surg"},{"key":"2025101712383743000_45.1.1.34","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3468(99)90248-8"},{"key":"2025101712383743000_45.1.1.35","first-page":"568","article-title":"A genetic study of Hirschsprung disease.","volume":"46","author":"Badner","year":"1990","journal-title":"Am J Hum Genet"},{"key":"2025101712383743000_45.1.1.36","doi-asserted-by":"publisher","DOI":"10.1038\/ng0893-346"},{"key":"2025101712383743000_45.1.1.37","doi-asserted-by":"publisher","DOI":"10.1038\/ng0893-351"},{"key":"2025101712383743000_45.1.1.38","doi-asserted-by":"crossref","first-page":"308","DOI":"10.1007\/BF00183991","article-title":"Total colonic aganglionosis associated with interstitial deletion of the long arm of chromosome 10.","volume":"7","author":"Martucciello","year":"1992","journal-title":"Pediatr Surg Int"},{"key":"2025101712383743000_45.1.1.39","doi-asserted-by":"publisher","DOI":"10.1038\/363458a0"},{"key":"2025101712383743000_45.1.1.40","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/2.7.851"},{"key":"2025101712383743000_45.1.1.41","doi-asserted-by":"publisher","DOI":"10.1038\/367378a0"},{"key":"2025101712383743000_45.1.1.42","doi-asserted-by":"publisher","DOI":"10.1038\/367377a0"},{"key":"2025101712383743000_45.1.1.43","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/4.5.821"},{"key":"2025101712383743000_45.1.1.44","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/4.8.1381"},{"key":"2025101712383743000_45.1.1.45","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1098-1004(1997)9:3<243::AID-HUMU5>3.0.CO;2-8"},{"key":"2025101712383743000_45.1.1.46","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1098-1004(200005)15:5<418::AID-HUMU3>3.0.CO;2-2"},{"key":"2025101712383743000_45.1.1.47","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/3.12.2163"},{"key":"2025101712383743000_45.1.1.48","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/3.2.237"},{"key":"2025101712383743000_45.1.1.49","doi-asserted-by":"publisher","DOI":"10.1038\/367375a0"},{"key":"2025101712383743000_45.1.1.50","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.91.4.1579"},{"key":"2025101712383743000_45.1.1.51","doi-asserted-by":"publisher","DOI":"10.1158\/0008-5472.CAN-04-2363"},{"key":"2025101712383743000_45.1.1.52","doi-asserted-by":"publisher","DOI":"10.1126\/science.7824936"},{"key":"2025101712383743000_45.1.1.53","doi-asserted-by":"publisher","DOI":"10.1038\/ng0595-35"},{"key":"2025101712383743000_45.1.1.54","doi-asserted-by":"crossref","first-page":"2717","DOI":"10.1002\/j.1460-2075.1996.tb00632.x","article-title":"Molecular heterogeneity of RET loss of function in Hirschsprung\u2019s disease.","volume":"15","author":"Carlomagno","year":"1996","journal-title":"Embo J"},{"key":"2025101712383743000_45.1.1.55","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/5.10.1577"},{"key":"2025101712383743000_45.1.1.56","doi-asserted-by":"publisher","DOI":"10.1172\/JCI375"},{"key":"2025101712383743000_45.1.1.57","doi-asserted-by":"publisher","DOI":"10.1053\/gast.2001.25515"},{"key":"2025101712383743000_45.1.1.58","doi-asserted-by":"publisher","DOI":"10.1016\/S0168-9525(01)02420-9"},{"key":"2025101712383743000_45.1.1.59","doi-asserted-by":"publisher","DOI":"10.1080\/07853890500442758"},{"key":"2025101712383743000_45.1.1.60","doi-asserted-by":"crossref","first-page":"139","DOI":"10.1016\/S0022-3468(00)80031-7","article-title":"Incidence of RET mutations in patients with Hirschsprung\u2019s disease.","volume":"35","author":"Sancandi","year":"2000","journal-title":"J Pediatr Surg"},{"key":"2025101712383743000_45.1.1.61","doi-asserted-by":"publisher","DOI":"10.1373\/clinchem.2003.022061"},{"key":"2025101712383743000_45.1.1.62","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.97.1.268"},{"key":"2025101712383743000_45.1.1.63","doi-asserted-by":"publisher","DOI":"10.1086\/302618"},{"key":"2025101712383743000_45.1.1.64","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.36.10.771"},{"key":"2025101712383743000_45.1.1.65","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.37.8.572"},{"key":"2025101712383743000_45.1.1.66","doi-asserted-by":"publisher","DOI":"10.1136\/gut.52.4.563"},{"key":"2025101712383743000_45.1.1.67","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5201199"},{"key":"2025101712383743000_45.1.1.68","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2004.028746"},{"key":"2025101712383743000_45.1.1.69","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.40.3.e18"},{"key":"2025101712383743000_45.1.1.70","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.40.9.714"},{"key":"2025101712383743000_45.1.1.71","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddi015"},{"key":"2025101712383743000_45.1.1.72","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2004.023960"},{"key":"2025101712383743000_45.1.1.73","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.40.2.e10"},{"key":"2025101712383743000_45.1.1.74","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20135"},{"key":"2025101712383743000_45.1.1.75","doi-asserted-by":"publisher","DOI":"10.1038\/nature03467"},{"key":"2025101712383743000_45.1.1.76","doi-asserted-by":"publisher","DOI":"10.1038\/sj.onc.1206443"},{"key":"2025101712383743000_45.1.1.77","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5201036"},{"key":"2025101712383743000_45.1.1.78","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5200521"},{"key":"2025101712383743000_45.1.1.79","doi-asserted-by":"publisher","DOI":"10.1086\/342774"},{"key":"2025101712383743000_45.1.1.80","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20397"},{"key":"2025101712383743000_45.1.1.81","doi-asserted-by":"publisher","DOI":"10.1006\/bbrc.1993.2392"},{"key":"2025101712383743000_45.1.1.82","doi-asserted-by":"publisher","DOI":"10.1038\/367380a0"},{"key":"2025101712383743000_45.1.1.83","doi-asserted-by":"publisher","DOI":"10.1002\/bies.20357"},{"key":"2025101712383743000_45.1.1.84","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddl418"},{"key":"2025101712383743000_45.1.1.85","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1520-6408(1996)19:4<309::AID-DVG4>3.0.CO;2-D"},{"key":"2025101712383743000_45.1.1.86","doi-asserted-by":"publisher","DOI":"10.1126\/science.287.5457.1489"},{"key":"2025101712383743000_45.1.1.87","doi-asserted-by":"publisher","DOI":"10.1242\/dev.01421"},{"key":"2025101712383743000_45.1.1.88","doi-asserted-by":"publisher","DOI":"10.1095\/biolreprod.105.047365"},{"key":"2025101712383743000_45.1.1.89","doi-asserted-by":"publisher","DOI":"10.1016\/j.immuni.2007.04.004"},{"key":"2025101712383743000_45.1.1.90","doi-asserted-by":"publisher","DOI":"10.1038\/nature05597"},{"key":"2025101712383743000_45.1.1.91","doi-asserted-by":"publisher","DOI":"10.1101\/gad.205001"},{"key":"2025101712383743000_45.1.1.92","doi-asserted-by":"publisher","DOI":"10.1038\/382076a0"},{"key":"2025101712383743000_45.1.1.93","doi-asserted-by":"publisher","DOI":"10.1038\/382070a0"},{"key":"2025101712383743000_45.1.1.94","doi-asserted-by":"publisher","DOI":"10.1038\/382073a0"},{"key":"2025101712383743000_45.1.1.95","doi-asserted-by":"publisher","DOI":"10.1038\/381789a0"},{"key":"2025101712383743000_45.1.1.96","doi-asserted-by":"publisher","DOI":"10.1016\/S0092-8674(00)81311-2"},{"key":"2025101712383743000_45.1.1.97","doi-asserted-by":"publisher","DOI":"10.1038\/382080a0"},{"key":"2025101712383743000_45.1.1.98","doi-asserted-by":"publisher","DOI":"10.1016\/S0896-6273(00)81077-6"},{"key":"2025101712383743000_45.1.1.99","doi-asserted-by":"publisher","DOI":"10.1038\/384467a0"},{"key":"2025101712383743000_45.1.1.100","doi-asserted-by":"publisher","DOI":"10.1016\/S0896-6273(00)80453-5"},{"key":"2025101712383743000_45.1.1.101","doi-asserted-by":"publisher","DOI":"10.1016\/S0896-6273(00)80649-2"},{"key":"2025101712383743000_45.1.1.102","doi-asserted-by":"publisher","DOI":"10.1038\/ng1196-341"},{"key":"2025101712383743000_45.1.1.103","doi-asserted-by":"publisher","DOI":"10.1038\/ng1196-345"},{"key":"2025101712383743000_45.1.1.104","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/5.12.2023"},{"key":"2025101712383743000_45.1.1.105","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/7.9.1449"},{"key":"2025101712383743000_45.1.1.106","doi-asserted-by":"publisher","DOI":"10.1016\/S0896-6273(00)80514-0"},{"key":"2025101712383743000_45.1.1.107","doi-asserted-by":"publisher","DOI":"10.1016\/S0896-6273(00)80541-3"},{"key":"2025101712383743000_45.1.1.108","doi-asserted-by":"publisher","DOI":"10.1006\/geno.1997.5191"},{"key":"2025101712383743000_45.1.1.109","first-page":"217","article-title":"Investigation of germline GFR alpha-1 mutations in Hirschsprung disease.","volume":"36","author":"Myers","year":"1999","journal-title":"J Med Genet"},{"key":"2025101712383743000_45.1.1.110","doi-asserted-by":"publisher","DOI":"10.1093\/emboj\/19.15.4056"},{"key":"2025101712383743000_45.1.1.111","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.86.8.2863"},{"key":"2025101712383743000_45.1.1.112","doi-asserted-by":"publisher","DOI":"10.1016\/0165-6147(92)90038-8"},{"key":"2025101712383743000_45.1.1.113","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3468(82)80124-3"},{"key":"2025101712383743000_45.1.1.114","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/3.8.1217"},{"key":"2025101712383743000_45.1.1.115","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.32.7.531"},{"key":"2025101712383743000_45.1.1.116","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1451"},{"key":"2025101712383743000_45.1.1.117","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(94)90017-5"},{"key":"2025101712383743000_45.1.1.118","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(94)90016-7"},{"key":"2025101712383743000_45.1.1.119","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(94)90018-3"},{"key":"2025101712383743000_45.1.1.120","doi-asserted-by":"publisher","DOI":"10.1038\/ng0496-445"},{"key":"2025101712383743000_45.1.1.121","doi-asserted-by":"publisher","DOI":"10.1038\/ng0496-442"},{"key":"2025101712383743000_45.1.1.122","doi-asserted-by":"publisher","DOI":"10.1038\/ng0298-171"},{"key":"2025101712383743000_45.1.1.123","doi-asserted-by":"publisher","DOI":"10.1086\/302895"},{"key":"2025101712383743000_45.1.1.124","doi-asserted-by":"crossref","first-page":"215","DOI":"10.1101\/gr.9.3.215","article-title":"The Sox10(Dom) mouse: modeling the genetic variation of Waardenburg- Shah (WS4) syndrome.","volume":"9","author":"Southard-Smith","year":"1999","journal-title":"Genome Res"},{"key":"2025101712383743000_45.1.1.125","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.95.9.5161"},{"key":"2025101712383743000_45.1.1.126","first-page":"303","article-title":"Endothelin receptor-mediated signaling in Hirschsprung disease.","volume":"5","author":"Chakravarti","year":"1996","journal-title":"Hum Mol Genet"},{"key":"2025101712383743000_45.1.1.127","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/5.3.355"},{"key":"2025101712383743000_45.1.1.128","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/5.3.347"},{"key":"2025101712383743000_45.1.1.129","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/5.3.351"},{"key":"2025101712383743000_45.1.1.130","doi-asserted-by":"crossref","first-page":"247","DOI":"10.1159\/000484771","article-title":"Endothelin-3 gene mutations in isolated and syndromic Hirschsprung disease.","volume":"5","author":"Bidaud","year":"1997","journal-title":"Eur J Hum Genet"},{"key":"2025101712383743000_45.1.1.131","doi-asserted-by":"publisher","DOI":"10.1086\/302184"},{"key":"2025101712383743000_45.1.1.132","doi-asserted-by":"crossref","first-page":"825","DOI":"10.1242\/dev.125.5.825","article-title":"Dual genetic pathways of endothelin-mediated intercellular signaling revealed by targeted disruption of endothelin converting enzyme-1 gene.","volume":"125","author":"Yanagisawa","year":"1998","journal-title":"Development"},{"key":"2025101712383743000_45.1.1.133","first-page":"11","article-title":"Phenotypic variability of del(2) (q22-q23): report of a case with a review of the literature.","volume":"5","author":"Lurie","year":"1994","journal-title":"Genet Couns"},{"key":"2025101712383743000_45.1.1.134","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.35.8.617"},{"key":"2025101712383743000_45.1.1.135","doi-asserted-by":"publisher","DOI":"10.1038\/86860"},{"key":"2025101712383743000_45.1.1.136","doi-asserted-by":"publisher","DOI":"10.1086\/346092"},{"key":"2025101712383743000_45.1.1.137","doi-asserted-by":"publisher","DOI":"10.1086\/428366"},{"key":"2025101712383743000_45.1.1.138","doi-asserted-by":"publisher","DOI":"10.1378\/chest.127.1.72"},{"key":"2025101712383743000_45.1.1.139","doi-asserted-by":"publisher","DOI":"10.1038\/20700"},{"key":"2025101712383743000_45.1.1.140","doi-asserted-by":"publisher","DOI":"10.1242\/dev.00866"},{"key":"2025101712383743000_45.1.1.141","doi-asserted-by":"publisher","DOI":"10.1097\/01.mcd.0000184973.14775.32"},{"key":"2025101712383743000_45.1.1.142","doi-asserted-by":"publisher","DOI":"10.1086\/515582"},{"key":"2025101712383743000_45.1.1.143","doi-asserted-by":"publisher","DOI":"10.1086\/515583"},{"key":"2025101712383743000_45.1.1.144","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3468(87)80265-8"},{"key":"2025101712383743000_45.1.1.145","doi-asserted-by":"publisher","DOI":"10.1002\/1521-4141(200010)30:10<2857::AID-IMMU2857>3.0.CO;2-G"},{"key":"2025101712383743000_45.1.1.146","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.31.4.325"},{"key":"2025101712383743000_45.1.1.147","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19980616)78:1<36::AID-AJMG8>3.0.CO;2-J"},{"key":"2025101712383743000_45.1.1.148","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20517"},{"key":"2025101712383743000_45.1.1.149","doi-asserted-by":"publisher","DOI":"10.1086\/302041"},{"key":"2025101712383743000_45.1.1.150","doi-asserted-by":"publisher","DOI":"10.1086\/302410"},{"key":"2025101712383743000_45.1.1.151","doi-asserted-by":"publisher","DOI":"10.1007\/BF02343439"},{"key":"2025101712383743000_45.1.1.152","doi-asserted-by":"crossref","first-page":"435","DOI":"10.1093\/oxfordjournals.jhered.a109980","article-title":"Association of megacolon with a new dominant spotting gene (Dom) in the mouse.","volume":"75","author":"Lane","year":"1984","journal-title":"J Hered"},{"key":"2025101712383743000_45.1.1.153","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/8.9.1785"},{"key":"2025101712383743000_45.1.1.154","doi-asserted-by":"publisher","DOI":"10.1038\/ng1322"},{"key":"2025101712383743000_45.1.1.155","doi-asserted-by":"publisher","DOI":"10.1086\/302329"},{"key":"2025101712383743000_45.1.1.156","doi-asserted-by":"publisher","DOI":"10.1086\/341345"},{"key":"2025101712383743000_45.1.1.157","doi-asserted-by":"publisher","DOI":"10.1007\/s004390050001"},{"key":"2025101712383743000_45.1.1.158","doi-asserted-by":"publisher","DOI":"10.1038\/ng0198-60"},{"key":"2025101712383743000_45.1.1.159","doi-asserted-by":"publisher","DOI":"10.1016\/j.ydbio.2006.03.031"},{"key":"2025101712383743000_45.1.1.160","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddi163"},{"key":"2025101712383743000_45.1.1.161","doi-asserted-by":"crossref","first-page":"89","DOI":"10.1038\/ng868","article-title":"Segregation at three loci explains familial and population risk in Hirschsprung disease.","volume":"31","author":"Gabriel","year":"2002","journal-title":"Nat Genet"},{"key":"2025101712383743000_45.1.1.162","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2005.038125"},{"key":"2025101712383743000_45.1.1.163","doi-asserted-by":"publisher","DOI":"10.1620\/tjem.187.43"},{"key":"2025101712383743000_45.1.1.164","doi-asserted-by":"publisher","DOI":"10.1007\/BF00418397"},{"key":"2025101712383743000_45.1.1.165","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.26.2.100"},{"key":"2025101712383743000_45.1.1.166","doi-asserted-by":"crossref","first-page":"748","DOI":"10.1007\/BF00201741","article-title":"A case of Hirschsprung disease with a chromosome 13 microdeletion, del(13)(q32.3q33.2): potential mapping of one disease locus.","volume":"87","author":"Bottani","year":"1991","journal-title":"Hum Genet"},{"key":"2025101712383743000_45.1.1.167","doi-asserted-by":"publisher","DOI":"10.1034\/j.1399-0004.2003.00105.x"},{"key":"2025101712383743000_45.1.1.168","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/4.12.2407"},{"key":"2025101712383743000_45.1.1.169","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320560322"},{"key":"2025101712383743000_45.1.1.170","doi-asserted-by":"publisher","DOI":"10.1001\/archderm.1980.01640340012007"},{"key":"2025101712383743000_45.1.1.171","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320310324"},{"key":"2025101712383743000_45.1.1.172","doi-asserted-by":"crossref","first-page":"517","DOI":"10.1097\/00005792-197811000-00003","article-title":"Congenital failure of automatic control of ventilation, gastrointestinal motility and heart rate.","volume":"57","author":"Haddad","year":"1978","journal-title":"Medicine (Baltimore)"},{"key":"2025101712383743000_45.1.1.173","doi-asserted-by":"publisher","DOI":"10.1007\/BF02072522"},{"key":"2025101712383743000_45.1.1.174","doi-asserted-by":"publisher","DOI":"10.1038\/ng1130"},{"key":"2025101712383743000_45.1.1.175","first-page":"603","article-title":"Hirschsprung\u2019s disease in a family with multiple endocrine neoplasia type 2.","volume":"1","author":"Verdy","year":"1982","journal-title":"J Pediatr Gastroenterol Nutr"},{"key":"2025101712383743000_45.1.1.176","doi-asserted-by":"publisher","DOI":"10.1016\/S0039-6060(05)80057-1"},{"key":"2025101712383743000_45.1.1.177","doi-asserted-by":"publisher","DOI":"10.1210\/jc.81.7.2731"},{"key":"2025101712383743000_45.1.1.178","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1098-1004(1997)10:2<155::AID-HUMU7>3.0.CO;2-J"},{"key":"2025101712383743000_45.1.1.179","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/7.1.129"},{"key":"2025101712383743000_45.1.1.180","doi-asserted-by":"publisher","DOI":"10.1046\/j.1365-2796.1998.00332.x"},{"key":"2025101712383743000_45.1.1.181","doi-asserted-by":"publisher","DOI":"10.1210\/jc.83.9.3361"},{"key":"2025101712383743000_45.1.1.182","first-page":"185","article-title":"Hirschsprung megacolon and cleft palate in two sibs.","volume":"1","author":"Goldberg","year":"1981","journal-title":"J Craniofac Genet Dev Biol"},{"key":"2025101712383743000_45.1.1.183","doi-asserted-by":"crossref","first-page":"485","DOI":"10.1136\/jmg.36.6.485","article-title":"A consanguineous family with Hirschsprung disease, microcephaly, and mental retardation (Goldberg-Shprintzen syndrome).","volume":"36","author":"Brooks","year":"1999","journal-title":"J Med Genet"},{"key":"2025101712383743000_45.1.1.184","doi-asserted-by":"publisher","DOI":"10.1086\/431244"},{"key":"2025101712383743000_45.1.1.185","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.25.3.204"},{"key":"2025101712383743000_45.1.1.186","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.12.4.334"},{"key":"2025101712383743000_45.1.1.187","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.25.11.758"},{"key":"2025101712383743000_45.1.1.188","doi-asserted-by":"crossref","first-page":"104","DOI":"10.1097\/00125817-199903000-00008","article-title":"A new syndrome: Heart defect, laryngeal anomalies, preaxial polydactyly, and colonic aganglionosis in sibs.","volume":"1","author":"Huang","year":"1999","journal-title":"Genet Med"},{"key":"2025101712383743000_45.1.1.189","doi-asserted-by":"crossref","first-page":"246","DOI":"10.1542\/peds.71.2.246","article-title":"Familial Hirschsprung\u2019s disease and type D brachydactyly: a report of four affected males in two generations.","volume":"71","author":"Reynolds","year":"1983","journal-title":"Pediatrics"},{"key":"2025101712383743000_45.1.1.190","first-page":"155","article-title":"Macrocephaly, Hirschsprung disease, brachydactyly, vertebral defects, and other minor anomalies.","volume":"1","author":"Toriello","year":"1988","journal-title":"Dysmorphology and Clinical Genetics"},{"key":"2025101712383743000_45.1.1.191","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/10.14.1503"},{"key":"2025101712383743000_45.1.1.192","doi-asserted-by":"publisher","DOI":"10.1086\/324342"},{"key":"2025101712383743000_45.1.1.193","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2005.01.003"},{"key":"2025101712383743000_45.1.1.194","first-page":"249","article-title":"Hypothalamic-pituitary dysfunction and Hirschsprung\u2019s disease in the Bardet-Biedl syndrome.","volume":"43","author":"Radetti","year":"1988","journal-title":"Helv Paediatr Acta"},{"key":"2025101712383743000_45.1.1.195","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(20000103)90:1<80::AID-AJMG14>3.0.CO;2-E"},{"key":"2025101712383743000_45.1.1.196","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3468(89)80118-6"},{"key":"2025101712383743000_45.1.1.197","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(83)80422-3"},{"key":"2025101712383743000_45.1.1.198","first-page":"1638","article-title":"[Cartilage-hair hypoplasia\u2013a Finnish growth disorder].","volume":"109","author":"Makitie","year":"1993","journal-title":"Duodecim"},{"key":"2025101712383743000_45.1.1.199","doi-asserted-by":"crossref","first-page":"334","DOI":"10.1007\/s10038-004-0153-4","article-title":"Hydrocephalus and Hirschsprung\u2019s disease with a mutation of L1CAM.","volume":"49","author":"Okamoto","year":"2004","journal-title":"J Hum Genet"},{"key":"2025101712383743000_45.1.1.200","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320470108"},{"key":"2025101712383743000_45.1.1.201","doi-asserted-by":"publisher","DOI":"10.1177\/088307389400900309"},{"key":"2025101712383743000_45.1.1.202","doi-asserted-by":"crossref","first-page":"24","DOI":"10.1111\/j.1525-1470.1989.tb00262.x","article-title":"Ichthyosis, deafness, and Hirschsprung\u2019s disease.","volume":"6","author":"Mallory","year":"1989","journal-title":"Pediatr Dermatol"},{"key":"2025101712383743000_45.1.1.203","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.20.2.122"},{"key":"2025101712383743000_45.1.1.204","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.34.8.670"},{"key":"2025101712383743000_45.1.1.205","doi-asserted-by":"publisher","DOI":"10.1007\/BF01001593"},{"key":"2025101712383743000_45.1.1.206","doi-asserted-by":"crossref","first-page":"186","DOI":"10.1002\/ajmg.a.20285","article-title":"Werner mesomelic dysplasia with Hirschsprung disease.","volume":"123","author":"Goldenberg","year":"2003","journal-title":"Am J Med Genet A"},{"key":"2025101712383743000_45.1.1.207","doi-asserted-by":"crossref","first-page":"259","DOI":"10.1097\/00019605-199910000-00005","article-title":"Jeune syndrome (asphyxiating thoracic dystrophy) associated with Hirschsprung disease.","volume":"8","author":"Aurora","year":"1999","journal-title":"Clin Dysmorphol"},{"key":"2025101712383743000_45.1.1.208","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.37.11.817"},{"key":"2025101712383743000_45.1.1.209","doi-asserted-by":"crossref","first-page":"1230","DOI":"10.1056\/NEJM196712072772304","article-title":"Familial neuroblastoma. Report of a kindred with multiple disorders, including neuroblastomas in four siblings.","volume":"277","author":"Chatten","year":"1967","journal-title":"N Engl J Med"},{"key":"2025101712383743000_45.1.1.210","doi-asserted-by":"crossref","first-page":"736","DOI":"10.1111\/j.1651-2227.1989.tb11135.x","article-title":"Familial occurrence of neuroblastoma, von Recklinghausen\u2019s neurofibromatosis, Hirschsprung\u2019s agangliosis and jaw-winking syndrome.","volume":"78","author":"Clausen","year":"1989","journal-title":"Acta Paediatr Scand"},{"key":"2025101712383743000_45.1.1.211","doi-asserted-by":"crossref","first-page":"675","DOI":"10.1093\/jnci\/57.3.675","article-title":"Developmental genetics of neuroblastoma.","volume":"57","author":"Knudson","year":"1976","journal-title":"J Natl Cancer Inst"},{"key":"2025101712383743000_45.1.1.212","doi-asserted-by":"publisher","DOI":"10.1002\/ppul.10031"},{"key":"2025101712383743000_45.1.1.213","doi-asserted-by":"publisher","DOI":"10.1086\/383253"},{"key":"2025101712383743000_45.1.1.214","doi-asserted-by":"publisher","DOI":"10.1086\/424530"},{"key":"2025101712383743000_45.1.1.215","doi-asserted-by":"crossref","first-page":"9280","DOI":"10.1038\/sj.onc.1208157","article-title":"The Phox2B homeobox gene is mutated in sporadic neuroblastomas.","volume":"23","author":"van Limpt","year":"2004","journal-title":"Oncogene"},{"key":"2025101712383743000_45.1.1.216","doi-asserted-by":"publisher","DOI":"10.1038\/sj.onc.1208532"},{"key":"2025101712383743000_45.1.1.217","doi-asserted-by":"crossref","first-page":"1297","DOI":"10.1002\/ajmg.a.31278","article-title":"PHOX2B analysis in non-syndromic neuroblastoma cases shows novel mutations and genotype-phenotype associations.","volume":"140","author":"McConville","year":"2006","journal-title":"Am J Med Genet A"},{"key":"2025101712383743000_45.1.1.218","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1099-0496(199810)26:4<273::AID-PPUL7>3.0.CO;2-C"},{"key":"2025101712383743000_45.1.1.219","doi-asserted-by":"publisher","DOI":"10.1007\/BF02388410"},{"key":"2025101712383743000_45.1.1.220","first-page":"595","article-title":"[Neurocristopathy. The association of Hirschsprung\u2019s disease-ganglioneuroma with autonomic nervous system dysfunction in 2 children].","volume":"46","author":"Levard","year":"1989","journal-title":"Arch Fr Pediatr"},{"key":"2025101712383743000_45.1.1.221","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320470313"},{"key":"2025101712383743000_45.1.1.222","doi-asserted-by":"crossref","first-page":"316","DOI":"10.1136\/adc.78.4.316","article-title":"Congenital central hypoventilation syndrome and Hirschsprung\u2019s disease.","volume":"78","author":"Croaker","year":"1998","journal-title":"Arch Dis Child"},{"key":"2025101712383743000_45.1.1.223","doi-asserted-by":"crossref","first-page":"267","DOI":"10.1002\/ajmg.a.20527","article-title":"Idiopathic congenital central hypoventilation syndrome: analysis of genes pertinent to early autonomic nervous system embryologic development and identification of mutations in PHOX2b.","volume":"123A","author":"Weese-Mayer","year":"2003","journal-title":"Am J Med Genet"},{"key":"2025101712383743000_45.1.1.224","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2003.015412"},{"key":"2025101712383743000_45.1.1.225","doi-asserted-by":"crossref","first-page":"88","DOI":"10.1164\/ajrccm.171.1.950","article-title":"Adult identified with congenital central hypoventilation syndrome\u2013mutation in PHOX2b gene and late-onset CHS.","volume":"171","author":"Weese-Mayer","year":"2005","journal-title":"Am J Respir Crit Care Med"},{"key":"2025101712383743000_45.1.1.226","first-page":"195","article-title":"A new syndrome combining developmental anomalies of the eyelids, eyebrows and nose root with pigmentary defects of the iris and head hair and with congenital deafness.","volume":"3","author":"Waardenburg","year":"1951","journal-title":"Am J Hum Genet"},{"key":"2025101712383743000_45.1.1.227","first-page":"468","article-title":"Heterogeneity in Waardenburg syndrome.","volume":"29","author":"Hageman","year":"1977","journal-title":"Am J Hum Genet"},{"key":"2025101712383743000_45.1.1.228","doi-asserted-by":"publisher","DOI":"10.1007\/BF00299420"},{"key":"2025101712383743000_45.1.1.229","doi-asserted-by":"publisher","DOI":"10.1007\/BF00527397"},{"key":"2025101712383743000_45.1.1.230","first-page":"20","article-title":"Syndrome identification case report 92: Hirschsprung megacolon, cleft lip and palate, mental retardation, and minor congenital malformations.","volume":"1","author":"Brunoni","year":"1983","journal-title":"J Clin Dysmorphol"},{"key":"2025101712383743000_45.1.1.231","doi-asserted-by":"crossref","first-page":"299","DOI":"10.1542\/peds.76.2.299","article-title":"Meningomyelocele and Hirschprung disease: theoretical and clinical significance.","volume":"76","author":"Merkler","year":"1985","journal-title":"Pediatrics"},{"key":"2025101712383743000_45.1.1.232","doi-asserted-by":"publisher","DOI":"10.1016\/S0925-4773(01)00599-8"},{"key":"2025101712383743000_45.1.1.233","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddm093"},{"key":"2025101712383743000_45.1.1.234","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.25.7.494"},{"key":"2025101712383743000_45.1.1.235","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320370125"},{"key":"2025101712383743000_45.1.1.236","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19970211)68:4<386::AID-AJMG2>3.0.CO;2-K"},{"key":"2025101712383743000_45.1.1.237","doi-asserted-by":"publisher","DOI":"10.1007\/s00467-007-0435-0"},{"key":"2025101712383743000_45.1.1.238","doi-asserted-by":"publisher","DOI":"10.1038\/75637"},{"key":"2025101712383743000_45.1.1.239","doi-asserted-by":"publisher","DOI":"10.1038\/79116"},{"key":"2025101712383743000_45.1.1.240","doi-asserted-by":"publisher","DOI":"10.1086\/301936"},{"key":"2025101712383743000_45.1.1.241","doi-asserted-by":"publisher","DOI":"10.1086\/301982"},{"key":"2025101712383743000_45.1.1.242","doi-asserted-by":"publisher","DOI":"10.1038\/ng0493-338"},{"key":"2025101712383743000_45.1.1.243","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2005.040113"},{"key":"2025101712383743000_45.1.1.244","doi-asserted-by":"publisher","DOI":"10.1136\/gut.2006.116145"},{"key":"2025101712383743000_45.1.1.245","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.39.3.e11"},{"key":"2025101712383743000_45.1.1.246","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.10185"},{"key":"2025101712383743000_45.1.1.247","first-page":"279","article-title":"Additional anomalies in Hirschsprung\u2019s disease: an analysis based on the nationwide survey in Japan.","volume":"41","author":"Ikeda","year":"1986","journal-title":"Z Kinderchir"},{"key":"2025101712383743000_45.1.1.248","doi-asserted-by":"publisher","DOI":"10.1016\/0022-3468(92)90111-J"},{"key":"2025101712383743000_45.1.1.249","doi-asserted-by":"crossref","first-page":"68","DOI":"10.1111\/j.1651-2227.1994.tb12955.x","article-title":"An epidemiological study of Hirschsprung\u2019s disease and additional anomalies.","volume":"83","author":"Russell","year":"1994","journal-title":"Acta Paediatr"},{"key":"2025101712383743000_45.1.1.250","doi-asserted-by":"crossref","first-page":"331","DOI":"10.1055\/s-2008-1071186","article-title":"Hirschsprung-associated congenital anomalies.","volume":"7","author":"Sarioglu","year":"1997","journal-title":"Eur J Pediatr Surg"},{"key":"2025101712383743000_45.1.1.251","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM200004203421615"},{"key":"2025101712383743000_45.1.1.252","first-page":"480","article-title":"Report of two patients with hypertrophic pyloric stenosis and Hirschsprung\u2019s disease. Coincident or common etiology?","volume":"51","author":"Whalen","year":"1985","journal-title":"Am Surg"},{"key":"2025101712383743000_45.1.1.253","doi-asserted-by":"crossref","first-page":"204","DOI":"10.1055\/s-2007-973789","article-title":"Agenesis of corpus callosum, hypertrophic pyloric stenosis and Hirschsprung disease: coincidence or common etiology?","volume":"27","author":"Sayed","year":"1996","journal-title":"Neuropediatrics"},{"key":"2025101712383743000_45.1.1.254","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3468(97)90576-5"},{"key":"2025101712383743000_45.1.1.255","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0337540100"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.2007.053959","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,17]],"date-time":"2025-10-17T19:38:49Z","timestamp":1760729929000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.2007.053959"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2007,10,26]]},"references-count":255,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2008,1,4]]},"published-print":{"date-parts":[[2008,1]]}},"alternative-id":["10.1136\/jmg.2007.053959"],"URL":"https:\/\/doi.org\/10.1136\/jmg.2007.053959","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"value":"0022-2593","type":"print"},{"value":"1468-6244","type":"electronic"}],"subject":[],"published":{"date-parts":[[2007,10,26]]}}}