{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,26]],"date-time":"2026-03-26T01:12:05Z","timestamp":1774487525127,"version":"3.50.1"},"reference-count":29,"publisher":"Elsevier BV","issue":"9","license":[{"start":{"date-parts":[[2005,9,1]],"date-time":"2005-09-01T00:00:00Z","timestamp":1125532800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Journal of Pediatric Surgery"],"published-print":{"date-parts":[[2005,9]]},"DOI":"10.1016\/j.jpedsurg.2005.05.040","type":"journal-article","created":{"date-parts":[[2005,9,8]],"date-time":"2005-09-08T09:07:48Z","timestamp":1126170468000},"page":"1411-1419","source":"Crossref","is-referenced-by-count":18,"title":["Variations in aganglionic segment length of the enteric neural plexus in Mowat-Wilson syndrome"],"prefix":"10.1016","volume":"40","author":[{"given":"Naoko","family":"Ishihara","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Atsuyoshi","family":"Shimada","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Junji","family":"Kato","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Norihiro","family":"Niimi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shuichi","family":"Tanaka","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kiyokuni","family":"Miura","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tatsuya","family":"Suzuki","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nobuaki","family":"Wakamatsu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Masahiro","family":"Nagaya","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.jpedsurg.2005.05.040_bib1","doi-asserted-by":"crossref","first-page":"131","DOI":"10.1007\/978-3-642-65857-0_4","article-title":"Hirschsprung's disease: its aetiology, pathogenesis and differential diagnosis","volume":"59","author":"Meier-Ruge","year":"1974","journal-title":"Curr Top Pathol"},{"key":"10.1016\/j.jpedsurg.2005.05.040_bib2","first-page":"456","article-title":"Hirschsprung's disease\u2014a pathologist's view","volume":"2","author":"Weinberg","year":"1975","journal-title":"Perspect Pediatr Pathol"},{"key":"10.1016\/j.jpedsurg.2005.05.040_bib3","doi-asserted-by":"crossref","first-page":"378","DOI":"10.1038\/367378a0","article-title":"Mutations of the RET proto-oncogene in Hirschsprung's disease","volume":"367","author":"Edery","year":"1994","journal-title":"Nature"},{"key":"10.1016\/j.jpedsurg.2005.05.040_bib4","doi-asserted-by":"crossref","first-page":"377","DOI":"10.1038\/367377a0","article-title":"Point mutations affecting the tyrosine kinase domain of the RET proto-oncogene in Hirschsprung's disease","volume":"367","author":"Romeo","year":"1994","journal-title":"Nature"},{"key":"10.1016\/j.jpedsurg.2005.05.040_bib5","doi-asserted-by":"crossref","first-page":"1257","DOI":"10.1016\/0092-8674(94)90016-7","article-title":"A missense mutation of the endothelin-B receptor gene in multigenic Hirschsprung's disease","volume":"79","author":"Puffenberger","year":"1994","journal-title":"Cell"},{"key":"10.1016\/j.jpedsurg.2005.05.040_bib6","doi-asserted-by":"crossref","first-page":"341","DOI":"10.1038\/ng1196-341","article-title":"Germline mutations in glial cell line\u2013derived neurotrophic factor (GDNF) and RET in a Hirschsprung disease patient","volume":"14","author":"Angrist","year":"1996","journal-title":"Nat Genet"},{"key":"10.1016\/j.jpedsurg.2005.05.040_bib7","doi-asserted-by":"crossref","first-page":"145","DOI":"10.1038\/ng1196-345","article-title":"Germline mutations of the RET ligand GDNF are not sufficient to cause Hirschsprung disease","volume":"14","author":"Salomon","year":"1996","journal-title":"Nat Genet"},{"key":"10.1016\/j.jpedsurg.2005.05.040_bib8","doi-asserted-by":"crossref","first-page":"442","DOI":"10.1038\/ng0496-442","article-title":"Mutation of the endothelin-3 gene in the Waardenburg-Hirschsprung disease (Shah-Waardenburg syndrome)","volume":"12","author":"Edery","year":"1996","journal-title":"Nat Genet"},{"key":"10.1016\/j.jpedsurg.2005.05.040_bib9","doi-asserted-by":"crossref","first-page":"445","DOI":"10.1038\/ng0496-445","article-title":"A homozygous mutation in the endothelin-3 gene associated with a combined Waardenburg type 2 and Hirschsprung phenotype (Shah-Waardenburg syndrome)","volume":"12","author":"Hofstra","year":"1996","journal-title":"Nat Genet"},{"key":"10.1016\/j.jpedsurg.2005.05.040_bib10","doi-asserted-by":"crossref","first-page":"171","DOI":"10.1038\/ng0298-171","article-title":"SOX10 mutations in patients with Waardenburg-Hirschsprung disease","volume":"18","author":"Pingault","year":"1998","journal-title":"Nat Genet"},{"key":"10.1016\/j.jpedsurg.2005.05.040_bib11","doi-asserted-by":"crossref","first-page":"304","DOI":"10.1086\/302184","article-title":"A loss-of-function mutation in the endothelin-converting enzyme 1 (ECE-1) associated with Hirschsprung disease, cardiac defects, and autonomic dysfunction","volume":"64","author":"Hofstra","year":"1999","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.jpedsurg.2005.05.040_bib12","doi-asserted-by":"crossref","first-page":"459","DOI":"10.1038\/ng1130","article-title":"Polyalanine expansion and frameshift mutations of the paired-like homeobox gene PHOX2B in congenital central hypoventilation syndrome","volume":"33","author":"Amiel","year":"2003","journal-title":"Nat Genet"},{"key":"10.1016\/j.jpedsurg.2005.05.040_bib13","doi-asserted-by":"crossref","first-page":"369","DOI":"10.1038\/86860","article-title":"Mutations in SIP1, encoding Smad interacting protein-1, cause a form of Hirschsprung disease","volume":"27","author":"Wakamatsu","year":"2001","journal-title":"Nat Genet"},{"key":"10.1016\/j.jpedsurg.2005.05.040_bib14","doi-asserted-by":"crossref","first-page":"1503","DOI":"10.1093\/hmg\/10.14.1503","article-title":"Loss-of-function mutations in SIP1 Smad interacting protein 1 result in a syndromic Hirschsprung disease","volume":"10","author":"Cacheux","year":"2001","journal-title":"Hum Mol Genet"},{"key":"10.1016\/j.jpedsurg.2005.05.040_bib15","doi-asserted-by":"crossref","first-page":"1117","DOI":"10.1053\/jpsu.2002.34455","article-title":"Clinical features of a form of Hirschsprung's disease caused by a novel genetic abnormality","volume":"37","author":"Nagaya","year":"2002","journal-title":"J Pediatr Surg"},{"key":"10.1016\/j.jpedsurg.2005.05.040_bib16","doi-asserted-by":"crossref","first-page":"1178","DOI":"10.1086\/324343","article-title":"Nonsense and frameshift mutations in ZFHX1B, encoding Smad-interacting protein 1, cause a complex developmental disorder with a great variety of clinical features","volume":"69","author":"Yamada","year":"2001","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.jpedsurg.2005.05.040_bib17","doi-asserted-by":"crossref","first-page":"257","DOI":"10.1002\/ajmg.a.20053","article-title":"Further delineation of the phenotype associated with heterozygous mutations in ZFHX1B","volume":"119A","author":"Wilson","year":"2003","journal-title":"Am J Med Genet"},{"key":"10.1016\/j.jpedsurg.2005.05.040_bib18","doi-asserted-by":"crossref","first-page":"1637","DOI":"10.1212\/01.WNL.0000034842.78350.4E","article-title":"Late infantile Hirschsprung disease\u2013mental retardation syndrome with a 3-bp deletion in ZFHX1B","volume":"59","author":"Yoneda","year":"2002","journal-title":"Neurology"},{"key":"10.1016\/j.jpedsurg.2005.05.040_bib19","doi-asserted-by":"crossref","first-page":"177","DOI":"10.1002\/ajmg.10226","article-title":"\u201cMowat-Wilson\u201d syndrome with and without Hirschsprung disease is a distinct, recognizable multiple congenital anomalies\u2013mental retardation syndrome caused by mutations in the zinc finger homeo box 1B gene","volume":"108","author":"Zweier","year":"2002","journal-title":"Am J Med Genet"},{"key":"10.1016\/j.jpedsurg.2005.05.040_bib20","doi-asserted-by":"crossref","first-page":"601","DOI":"10.1136\/jmg.40.8.601","article-title":"Characterisation of deletions of the ZFHX1B region and genotype-phenotype analysis in Mowat-Wilson syndrome","volume":"40","author":"Zweier","year":"2003","journal-title":"J Med Genet"},{"key":"10.1016\/j.jpedsurg.2005.05.040_bib21","doi-asserted-by":"crossref","first-page":"1178","DOI":"10.1086\/324342","article-title":"Large-scale deletions and SMADIP1 truncating mutations in syndromic Hirschsprung disease with involvement of midline structures","volume":"69","author":"Amiel","year":"2001","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.jpedsurg.2005.05.040_bib22","doi-asserted-by":"crossref","first-page":"385","DOI":"10.1002\/ajmg.a.10855","article-title":"Hirschsprung disease, mental retardation, characteristic facial features, and mutation in the gene ZFHX1B (SIP1): confirmation of the Mowat-Wilson syndrome","volume":"116A","author":"Garavelli","year":"2003","journal-title":"Am J Med Genet"},{"key":"10.1016\/j.jpedsurg.2005.05.040_bib23","doi-asserted-by":"crossref","first-page":"617","DOI":"10.1136\/jmg.35.8.617","article-title":"Hirschsprung disease, microcephaly, mental retardation, and characteristic facial features: delineation of a new syndrome and identification of a locus at chromosome 2q22-q23","volume":"35","author":"Mowat","year":"1998","journal-title":"J Med Genet"},{"key":"10.1016\/j.jpedsurg.2005.05.040_bib24","doi-asserted-by":"crossref","first-page":"53","DOI":"10.1007\/s100240010115","article-title":"Morphometric assessment of Hirschsprung's disease: associated hypoganglionosis of the colonic myenteric plexus","volume":"4","author":"Meier-Ruge","year":"2001","journal-title":"Pediatr Dev Pathol"},{"key":"10.1016\/j.jpedsurg.2005.05.040_bib25","doi-asserted-by":"crossref","first-page":"67","DOI":"10.1055\/s-2008-1072216","article-title":"A correlative morphometric and clinical investigation of hypoganglionosis of the colon in children","volume":"9","author":"Meier-Ruge","year":"1999","journal-title":"Eur J Pediatr Surg"},{"key":"10.1016\/j.jpedsurg.2005.05.040_bib26","doi-asserted-by":"crossref","first-page":"465","DOI":"10.1086\/346092","article-title":"Mice lacking Zfhx1b, the gene that codes for Smad-interacting protein-1, reveal a role for multiple neural crest cell defects in the etiology of Hirschsprung disease\u2013mental retardation syndrome","volume":"72","author":"Van de Putte","year":"2003","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.jpedsurg.2005.05.040_bib27","doi-asserted-by":"crossref","first-page":"305","DOI":"10.1136\/jmg.40.5.305","article-title":"Mowat-Wilson syndrome","volume":"40","author":"Mowat","year":"2003","journal-title":"J Med Genet"},{"key":"10.1016\/j.jpedsurg.2005.05.040_bib28","doi-asserted-by":"crossref","first-page":"2","DOI":"10.1007\/s003830050002","article-title":"Histopathologic observations of anorectal abnormalities in anal atresia","volume":"16","author":"Meier-Ruge","year":"2000","journal-title":"Pediatr Surg Int"},{"key":"10.1016\/j.jpedsurg.2005.05.040_bib29","series-title":"Pseudo-Hirschsprung's disease: it's definition, denomination, classification, diagnosis and treatment","first-page":"17","article-title":"Pseudo-Hirschsprung's disease: research on the pathophysiology, diagnosis and treatment","author":"Okamoto","year":"1996"}],"container-title":["Journal of Pediatric Surgery"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0022346805004136?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0022346805004136?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2019,1,22]],"date-time":"2019-01-22T08:27:12Z","timestamp":1548145632000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0022346805004136"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2005,9]]},"references-count":29,"journal-issue":{"issue":"9","published-print":{"date-parts":[[2005,9]]}},"alternative-id":["S0022346805004136"],"URL":"https:\/\/doi.org\/10.1016\/j.jpedsurg.2005.05.040","relation":{},"ISSN":["0022-3468"],"issn-type":[{"value":"0022-3468","type":"print"}],"subject":[],"published":{"date-parts":[[2005,9]]}}}