{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,11]],"date-time":"2026-05-11T11:21:21Z","timestamp":1778498481614,"version":"3.51.4"},"reference-count":11,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2023,1,27]],"date-time":"2023-01-27T00:00:00Z","timestamp":1674777600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Pediatric Dermatology"],"published-print":{"date-parts":[[2023,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Happle\u2010Tinschert syndrome is a rare genodermatosis caused by a postzygotic mutation in <jats:italic>SMO<\/jats:italic> gene. The most recognized clinical findings include segmentally arranged basaloid follicular hamartomas, nevoid hypertrichosis, linear atrophoderma, and hypopigmentation or hyperpigmentation following Blaschko lines associated with osseous, dental, and cerebral alterations. We report three additional cases, two of which lacked the pathognomonic basaloid follicular hamartomas, with genetic confirmation and detailed clinical characterization and describe new cutaneous features of this infrequent syndrome.<\/jats:p>","DOI":"10.1111\/pde.15248","type":"journal-article","created":{"date-parts":[[2023,1,28]],"date-time":"2023-01-28T00:43:32Z","timestamp":1674866612000},"page":"691-694","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["<scp>Happle\u2010Tinschert<\/scp> syndrome variable phenotype as part of the mosaic hedgehog spectrum: Report of three cases"],"prefix":"10.1111","volume":"40","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-4287-8121","authenticated-orcid":false,"given":"Ramiro","family":"Cano","sequence":"first","affiliation":[{"name":"Department of Dermatology Hospital Alem\u00e1n  Buenos Aires Argentina"},{"name":"Department of Pediatric Dermatology Hospital Ramos Mej\u00eda  Buenos Aires Argentina"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mar\u00eda Eugenia","family":"Abad","sequence":"additional","affiliation":[{"name":"Department of Dermatology Hospital Alem\u00e1n  Buenos Aires Argentina"},{"name":"Department of Pediatric Dermatology Hospital Ramos Mej\u00eda  Buenos Aires Argentina"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Denny","family":"Schanze","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics University Hospital Magdeburg  Magdeburg Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Martin","family":"Zenker","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics University Hospital Magdeburg  Magdeburg Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eva","family":"Serafin","sequence":"additional","affiliation":[{"name":"Department of Genetics Hospital Alem\u00e1n  Buenos Aires Argentina"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Margarita","family":"Larralde","sequence":"additional","affiliation":[{"name":"Department of Dermatology Hospital Alem\u00e1n  Buenos Aires Argentina"},{"name":"Department of Pediatric Dermatology Hospital Ramos Mej\u00eda  Buenos Aires Argentina"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2023,1,27]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.2340\/00015555-0495"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1159\/000174103"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.4103\/0378-6323.125468"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1111\/ced.12161"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.5021\/ad.2020.32.2.159"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1525-1470.2010.01225.x"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.2340\/00015555-2883"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2016.04.007"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1111\/bjd.14924"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1111\/bjd.18150"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1111\/jdv.16059"}],"container-title":["Pediatric Dermatology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/pde.15248","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1111\/pde.15248","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/pde.15248","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,18]],"date-time":"2023-08-18T05:39:11Z","timestamp":1692337151000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/pde.15248"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,1,27]]},"references-count":11,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2023,7]]}},"alternative-id":["10.1111\/pde.15248"],"URL":"https:\/\/doi.org\/10.1111\/pde.15248","archive":["Portico"],"relation":{},"ISSN":["0736-8046","1525-1470"],"issn-type":[{"value":"0736-8046","type":"print"},{"value":"1525-1470","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,1,27]]},"assertion":[{"value":"2022-09-12","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-12-29","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-01-27","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}