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We report a case of megalencephaly\u2010polymicrogyria\u2010pigmentary mosaicism syndrome (MPPM) in novel association with <jats:italic>MTOR<\/jats:italic> pathogenic variant c.6644C&gt;A (p.Ser2215Tyr) and neonatal evanescent skin findings. This case highlights the importance of a thorough newborn cutaneous examination, as this initial window offers a critical opportunity for potential prognostication and surveillance for neurological sequelae.<\/jats:p>","DOI":"10.1111\/pde.14480","type":"journal-article","created":{"date-parts":[[2020,12,16]],"date-time":"2020-12-16T22:14:23Z","timestamp":1608156863000},"page":"536-537","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Novel neonatal presentation of megalencephaly\u2010polymicrogyria\u2010pigmentary mosaicism syndrome (MPPM) related to <i>MTOR<\/i> mutation: Report of a case"],"prefix":"10.1111","volume":"38","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-7666-0134","authenticated-orcid":false,"given":"Dustin L.","family":"Taylor","sequence":"first","affiliation":[{"name":"Division of Dermatology University of Vermont Medical Center Burlington VT USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Robert S.","family":"Wildin","sequence":"additional","affiliation":[{"name":"Departments of Pathology &amp; Laboratory Medicine and Pediatrics University of Vermont Health Network Burlington VT USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Keith W.","family":"Morley","sequence":"additional","affiliation":[{"name":"Division of Dermatology University of Vermont Medical Center Burlington VT USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2020,12,16]]},"reference":[{"key":"e_1_2_3_2_1","doi-asserted-by":"publisher","DOI":"10.1158\/2159-8290.CD-13-0929"},{"key":"e_1_2_3_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.61007"},{"key":"e_1_2_3_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.31736"},{"key":"e_1_2_3_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.spen.2015.11.001"},{"key":"e_1_2_3_6_1","unstructured":"U.S. National Library of Medicine.Study of Sirolimus Therapy for Segmental Overgrowth Caused by Somatic PI3K Activation. (Clinicaltrials.gov Identifier NCT02428296).2020.https:\/\/www.clinicaltrials.gov\/ct2\/show\/results\/NCT02428296&draw=2&rank=1&view=resultsAccessed June 24 2020"}],"container-title":["Pediatric Dermatology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/pde.14480","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1111\/pde.14480","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/pde.14480","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,17]],"date-time":"2023-08-17T19:29:28Z","timestamp":1692300568000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/pde.14480"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,12,16]]},"references-count":5,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2021,3]]}},"alternative-id":["10.1111\/pde.14480"],"URL":"https:\/\/doi.org\/10.1111\/pde.14480","archive":["Portico"],"relation":{},"ISSN":["0736-8046","1525-1470"],"issn-type":[{"type":"print","value":"0736-8046"},{"type":"electronic","value":"1525-1470"}],"subject":[],"published":{"date-parts":[[2020,12,16]]},"assertion":[{"value":"2020-04-13","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2020-11-15","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2020-12-16","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}