{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,19]],"date-time":"2026-10-19T04:09:09Z","timestamp":1792382949047,"version":"4.4.0"},"reference-count":23,"publisher":"BMJ","issue":"4","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1994,4]]},"abstract":"<jats:p>We report a patient with total colonic aganglionosis in association with a deletion of part of the long arm of chromosome 10: (del(10)(q11.2q21.2)). This deletion includes the ret proto-oncogene, which has recently been implicated in multiple endocrine neoplasia type 2A (MEN 2A). The possible links between Hirschsprung's disease and the neurocristopathies and the aetiological role of abnormalities of neural crest development in these conditions are discussed.<\/jats:p>","DOI":"10.1136\/jmg.31.4.325","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:23:16Z","timestamp":1226330596000},"page":"325-327","source":"Crossref","is-referenced-by-count":51,"title":["Hirschsprung's disease associated with a deletion of chromosome 10 (q11.2q21.2): a further link with the neurocristopathies?"],"prefix":"10.1136","volume":"31","author":[{"given":"M S","family":"Fewtrell","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"P K","family":"Tam","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A H","family":"Thomson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M","family":"Fitchett","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J","family":"Currie","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S M","family":"Huson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L M","family":"Mulligan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[1994,4,1]]},"reference":[{"key":"ref_1","first-page":"56880","article-title":"A genetic study of Hirschsprung's disease","volume":"46","author":"Badner, J.; Sieber, W.; Garver, K.","year":"1990","unstructured":"Badner J, Sieber W, Garver K, et al. A genetic study of Hirschsprung's disease. Am Hum Genet 1990;46:56880.","journal-title":"Am Hum Genet"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"736","DOI":"10.1111\/j.1651-2227.1989.tb11135.x","article-title":"Familial occurrence of neuroblastoma, Von Recklinghausen's neurofibromatosis, Hirschsprung's aganglionosis and jawwinking syndrome","volume":"78","author":"Clausen, N.; Andersson, P.; Tommerup, N.","year":"1989","unstructured":"Clausen N, Andersson P, Tommerup N. Familial occurrence of neuroblastoma, Von Recklinghausen's neurofibromatosis, Hirschsprung's aganglionosis and jawwinking syndrome. Acta Paediatr Scand 1989;78:736-41.","journal-title":"Acta Paediatr Scand"},{"key":"ref_3","first-page":"595","article-title":"The association of Hirschsprung's disease-ganglioneuroma with autonomic nervous system dysfunction in two children","volume":"46","author":"Levard, G.; Boige, N.; Viyoux, C.","year":"1989","unstructured":"Levard G, Boige N, Viyoux C, et al. 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Germline mutations of the RET proto-oncogene in multiple endocrine neoplasia type 2A (MEN 2A). Nature 1993;363: 458-60.","journal-title":"Nature"},{"key":"ref_6","first-page":"308","article-title":"Total colonic aganglionosis associated with interstitial deletion of the long arm of chromosome 10","volume":"7","author":"Martucciello, G.; Bicocchi, M.P.; Dodero, P.","year":"1992","unstructured":"Martucciello G, Bicocchi MP, Dodero P, et al. Total colonic aganglionosis associated with interstitial deletion of the long arm of chromosome 10. Pediatr Surg Int 1992;7:308-10.","journal-title":"Pediatr Surg Int"},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"524","DOI":"10.1038\/328524a0","article-title":"Deletion of genes on chromosome 1 in endocrine neoplasia","volume":"328","author":"Matthew, C.G.P.; Smith, B.A.; Thorpe, K.","year":"1987","unstructured":"Matthew CGP, Smith BA, Thorpe K, et al. Deletion of genes on chromosome 1 in endocrine neoplasia. 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