{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,28]],"date-time":"2026-01-28T05:54:17Z","timestamp":1769579657980,"version":"3.49.0"},"reference-count":22,"publisher":"Wiley","issue":"23","license":[{"start":{"date-parts":[[2006,8,11]],"date-time":"2006-08-11T00:00:00Z","timestamp":1155254400000},"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":[[2006,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We report on the occurrence of discrete patches of unusually long pigmented hair on the skin of three patients with Gorlin syndrome from two unrelated families with confirmed heterozygous mutations in the <jats:italic>Patched<\/jats:italic> (<jats:italic>PTCH<\/jats:italic>) gene. The PTCH protein is a negative regulator of Hedgehog signaling, and the Sonic Hedgehog (SHH)\u2010PTCH pathway is known to play an important role in the formation and cycling of the hair follicle. We believe that the patches represent a genuine physical sign associated with Gorlin syndrome, and discuss molecular mechanisms by which they might arise. \u00a9 2006 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.31374","type":"journal-article","created":{"date-parts":[[2006,8,11]],"date-time":"2006-08-11T23:16:49Z","timestamp":1155338209000},"page":"2625-2630","source":"Crossref","is-referenced-by-count":28,"title":["<i>Patched<\/i> mutations and hairy skin patches: A new sign in Gorlin syndrome"],"prefix":"10.1002","volume":"140A","author":[{"given":"Louise C.","family":"Wilson","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ekundayo","family":"Ajayi\u2010Obe","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Birgitta","family":"Bernhard","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Saskia M.","family":"Maas","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2006,8,11]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/10.7.757"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1523-1747.2003.12423.x"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0959-437X(00)00230-6"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1006\/dbio.1998.9103"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.20495"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI8416"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1097\/01.GIM.0000144188.15902.C4"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0092-8674(00)81268-4"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.onc.1202360"},{"key":"e_1_2_5_11_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.onc.1204946"},{"key":"e_1_2_5_12_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.0022-202x.2001.01670.x"},{"key":"e_1_2_5_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0012-1606(02)00042-8"},{"key":"e_1_2_5_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.9317"},{"key":"e_1_2_5_15_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM199908123410706"},{"key":"e_1_2_5_16_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_17_1","doi-asserted-by":"publisher","DOI":"10.1038\/46938"},{"key":"e_1_2_5_18_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI7691"},{"key":"e_1_2_5_19_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0960-9822(98)70443-9"},{"key":"e_1_2_5_20_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1523-1747.2000.00951.x"},{"key":"e_1_2_5_21_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0304-3835(01)00676-0"},{"key":"e_1_2_5_22_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"},{"key":"e_1_2_5_23_1","doi-asserted-by":"publisher","DOI":"10.1038\/34201"}],"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.31374","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.31374","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,13]],"date-time":"2023-09-13T08:56:08Z","timestamp":1694595368000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.31374"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2006,8,11]]},"references-count":22,"journal-issue":{"issue":"23","published-print":{"date-parts":[[2006,12]]}},"alternative-id":["10.1002\/ajmg.a.31374"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.31374","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2006,8,11]]}}}