{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,14]],"date-time":"2026-03-14T03:23:26Z","timestamp":1773458606568,"version":"3.50.1"},"reference-count":15,"publisher":"Wiley","issue":"20","license":[{"start":{"date-parts":[[2008,9,16]],"date-time":"2008-09-16T00:00:00Z","timestamp":1221523200000},"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":[[2008,10,15]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Curry\u2013Jones syndrome (OMIM #601707) is a rare multiple malformation disorder of unknown etiology, associated with brain and skull abnormalities, polysyndactyly, and defects of the eyes, skin and gastrointestinal tract. We report on two new cases of Curry\u2013Jones syndrome with previously unreported features, including benign and malignant neoplasms. The first patient had typical features of Curry\u2013Jones syndrome as well as multiple intra\u2010abdominal smooth muscle hamartomas and trichoblastoma of the skin. The second patient was born with occipital meningoceles and developed a desmoplastic medulloblastoma. Routine lymphocyte karyotype, <jats:italic>GLI3<\/jats:italic> gene analysis and Patched (<jats:italic>PTCH<\/jats:italic>) gene analysis on both patients and chromosome microarray analysis on the first patient were normal. We review the previously reported cases of Curry\u2013Jones syndrome and compare our patients' findings. In view of the association of trichoblastoma with basal cell carcinoma and desmoplastic medulloblastoma with nevoid basal cell carcinoma syndrome (NBCCS) and PTCH mutations, we hypothesize that Curry\u2013Jones syndrome is caused by malfunction of an element in the sonic hedgehog pathway. \u00a9 2008 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.32503","type":"journal-article","created":{"date-parts":[[2008,9,16]],"date-time":"2008-09-16T21:23:22Z","timestamp":1221600202000},"page":"2589-2597","source":"Crossref","is-referenced-by-count":16,"title":["Two new patients with Curry\u2013Jones syndrome with trichoblastoma and medulloblastoma suggest an etiologic role of the sonic hedgehog\u2010patched\u2010GLI pathway"],"prefix":"10.1002","volume":"146A","author":[{"given":"Dorothy K.","family":"Grange","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Carol L.","family":"Clericuzio","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Susan J.","family":"Bayliss","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"David R.","family":"Berk","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Richard L.","family":"Heideman","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Julie K.","family":"Higginson","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Stephanie","family":"Julian","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anne","family":"Lind","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2008,9,16]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/15242"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.20495"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0190-9622(00)90136-1"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.39.11.804"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/cncr.10642"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.humpath.2007.02.015"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1086\/429346"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1097\/00019605-199901000-00015"},{"key":"e_1_2_5_10_1","first-page":"1798","article-title":"Missense mutations in SMOH in sporadic basal cell carcinomas of the skin and primitive neuroectodermal tumors of the central nervous system","volume":"58","author":"Reifenberger J","year":"1998","journal-title":"Cancer Res"},{"key":"e_1_2_5_11_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng916"},{"key":"e_1_2_5_12_1","doi-asserted-by":"publisher","DOI":"10.1097\/00019605-199504000-00003"},{"key":"e_1_2_5_13_1","doi-asserted-by":"publisher","DOI":"10.1097\/01.mcd.0000194406.85052.de"},{"key":"e_1_2_5_14_1","doi-asserted-by":"crossref","first-page":"1047","DOI":"10.1016\/S0002-9297(07)62934-6","article-title":"The sonic hedgehog\u2010Patched\u2010Gli pathway in human development and disease","volume":"67","author":"Villavicencio EH","year":"2002","journal-title":"Am J Hum Genet"},{"key":"e_1_2_5_15_1","first-page":"1834","article-title":"The sebaceous nevus: A nevus with deletions of the PTCH gene","volume":"15","author":"Xin H","year":"1999","journal-title":"Cancer Res"},{"key":"e_1_2_5_16_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF03401719"}],"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.32503","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.32503","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,18]],"date-time":"2023-10-18T08:20:07Z","timestamp":1697617207000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.32503"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2008,9,16]]},"references-count":15,"journal-issue":{"issue":"20","published-print":{"date-parts":[[2008,10,15]]}},"alternative-id":["10.1002\/ajmg.a.32503"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.32503","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2008,9,16]]}}}