{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,29]],"date-time":"2026-04-29T10:29:18Z","timestamp":1777458558525,"version":"3.51.4"},"reference-count":17,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2003,4,1]],"date-time":"2003-04-01T00:00:00Z","timestamp":1049155200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2003,8,15]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We present the case of a 14\u2010year\u2010old Japanese girl who had both Gorlin syndrome and ulcerative colitis. She had complained of blood stools for 6 months and severe scoliosis from her infancy. Physical examination revealed multiple nevi, palmar and plantar pits, jaw cysts, and calcification of the falx cerebri, leading to the diagnosis of Gorlin syndrome. Total colonoscopy revealed an edematous and spotty bleeding mucosa extending from the anus to the transverse colon. Histological examination was also compatible with ulcerative colitis. Thus, we diagnosed her as having Gorlin syndrome with ulcerative colitis. Gene analysis revealed a mutation, 1247InsT, in the human patched gene (<jats:italic>PTCH<\/jats:italic>), resulting in the truncation of PTCH protein. Since Gorlin syndrome and ulcerative colitis are rare disorders in childhood, this association is interesting, suggesting a correlation between the hedgehog signaling and intestinal disorders. \u00a9 2003 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.20082","type":"journal-article","created":{"date-parts":[[2003,7,31]],"date-time":"2003-07-31T10:15:55Z","timestamp":1059646555000},"page":"65-68","source":"Crossref","is-referenced-by-count":10,"title":["Gorlin syndrome with ulcerative colitis in a Japanese girl"],"prefix":"10.1002","volume":"121A","author":[{"given":"Katsunori","family":"Fujii","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Toshiyuki","family":"Miyashita","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Taku","family":"Omata","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kazuhiko","family":"Kobayashi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jun\u2010ichi","family":"Takanashi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Katsunori","family":"Kouchi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Masao","family":"Yamada","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yoichi","family":"Kohno","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2003,4]]},"reference":[{"key":"e_1_2_4_2_1","doi-asserted-by":"publisher","DOI":"10.1053\/gast.1996.v110.pm8613031"},{"key":"e_1_2_4_3_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/10.7.757"},{"key":"e_1_2_4_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1196-353"},{"key":"e_1_2_4_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1357-2725(98)00046-6"},{"key":"e_1_2_4_6_1","doi-asserted-by":"publisher","DOI":"10.1097\/00042737-199709000-00007"},{"key":"e_1_2_4_7_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1349-7006.1999.tb00719.x"},{"key":"e_1_2_4_8_1","doi-asserted-by":"publisher","DOI":"10.1097\/00005792-198703000-00002"},{"key":"e_1_2_4_9_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM196005052621803"},{"key":"e_1_2_4_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0092-8674(00)81268-4"},{"key":"e_1_2_4_11_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.272.5268.1668"},{"key":"e_1_2_4_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/0002-9343(68)90119-8"},{"key":"e_1_2_4_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19970331)69:3<299::AID-AJMG16>3.0.CO;2-M"},{"key":"e_1_2_4_14_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/8.2.307"},{"key":"e_1_2_4_15_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1096-199"},{"key":"e_1_2_4_16_1","doi-asserted-by":"publisher","DOI":"10.1001\/archderm.99.1.131"},{"key":"e_1_2_4_17_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM197807062990118"},{"key":"e_1_2_4_18_1","first-page":"21","article-title":"Most germ\u2010line mutations in the nevoid basal cell carcinoma syndrome lead to a premature termination of the PATCHED protein, and no genotype\u2010phenotype correlations are evident","volume":"60","author":"Wicking C","year":"1997","journal-title":"Am J Hum Genet"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.20082","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.20082","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,11,16]],"date-time":"2023-11-16T20:58:01Z","timestamp":1700168281000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.20082"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2003,4]]},"references-count":17,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2003,8,15]]}},"alternative-id":["10.1002\/ajmg.a.20082"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.20082","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2003,4]]}}}