{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,5,14]],"date-time":"2025-05-14T01:53:02Z","timestamp":1747187582615,"version":"3.40.5"},"reference-count":13,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2019,8,4]],"date-time":"2019-08-04T00:00:00Z","timestamp":1564876800000},"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":[[2019,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We present a multigenerational family with a phenotypic spectrum of skin dyspigmentation, lipodystrophy, bony anomalies, and progeroid facies. All were found to be heterozygous for a c.11C&gt;G (p.Pro4Arg) (P4R) mutation in the lamin A\/C gene consistent with atypical progeroid syndrome. Various phenotypic associations have been reported with specific mutations in atypical progeroid syndrome, but the strength of each phenotype\u2010genotype relationship is unknown. This report adds to the literature of patients with atypical progeroid syndrome and highlights an unusual diagnosis that may present to dermatologists.<\/jats:p>","DOI":"10.1111\/pde.13917","type":"journal-article","created":{"date-parts":[[2019,8,4]],"date-time":"2019-08-04T22:48:56Z","timestamp":1564958936000},"page":"913-917","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Diffuse, mottled hyperpigmentation and mutations in <i><scp>LMNA<\/scp><\/i> gene in a 5\u2010year\u2010old boy, his mother, and his grandmother: Atypical progeroid syndrome"],"prefix":"10.1111","volume":"36","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-5080-892X","authenticated-orcid":false,"given":"Brittney","family":"Schultz","sequence":"first","affiliation":[{"name":"Department of Dermatology University of Minnesota Minneapolis Minnesota"},{"name":"Department of Internal Medicine University of Minnesota Minneapolis Minnesota"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Daniel D.","family":"Miller","sequence":"additional","affiliation":[{"name":"Department of Dermatology University of Minnesota Minneapolis Minnesota"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0033-8285","authenticated-orcid":false,"given":"Sheilagh","family":"Maguiness","sequence":"additional","affiliation":[{"name":"Department of Dermatology University of Minnesota Minneapolis Minnesota"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2019,8,4]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2009-0472"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.gene.2014.05.042"},{"issue":"1","key":"e_1_2_5_4_1","first-page":"459","article-title":"57th annual meeting of the European society for paediatric endocrinology (ESPE): A long follow\u2010up in a young patient with atypical progeroid syndrome","volume":"90","author":"Scarano E","year":"2018","journal-title":"Horm Res Paed"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.yexcr.2007.03.028"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature01629"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.1084125"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1086\/341908"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2003.015651"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(03)14069-X"},{"key":"e_1_2_5_11_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa0706898"},{"key":"e_1_2_5_12_1","doi-asserted-by":"publisher","DOI":"10.1001\/jamacardio.2017.5235"},{"key":"e_1_2_5_13_1","doi-asserted-by":"publisher","DOI":"10.1210\/jcem.87.2.8258"},{"key":"e_1_2_5_14_1","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2017-02078"}],"container-title":["Pediatric Dermatology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fpde.13917","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/pde.13917","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1111\/pde.13917","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/pde.13917","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,9]],"date-time":"2023-09-09T10:35:22Z","timestamp":1694255722000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/pde.13917"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,8,4]]},"references-count":13,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2019,11]]}},"alternative-id":["10.1111\/pde.13917"],"URL":"https:\/\/doi.org\/10.1111\/pde.13917","archive":["Portico"],"relation":{},"ISSN":["0736-8046","1525-1470"],"issn-type":[{"type":"print","value":"0736-8046"},{"type":"electronic","value":"1525-1470"}],"subject":[],"published":{"date-parts":[[2019,8,4]]},"assertion":[{"value":"2019-08-04","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}