{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,2]],"date-time":"2026-07-02T17:17:46Z","timestamp":1783012666153,"version":"3.54.6"},"reference-count":19,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2026,3,19]],"date-time":"2026-03-19T00:00:00Z","timestamp":1773878400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2026,3,19]],"date-time":"2026-03-19T00:00:00Z","timestamp":1773878400000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2026,8]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    Encephalocraniocutaneous lipomatosis (ECCL) is a neurocutaneous condition caused by postzygotic mosaic activating variants in genes including\n                    <jats:italic>FGFR1, NRAS,<\/jats:italic>\n                    or\n                    <jats:italic>KRAS<\/jats:italic>\n                    . It primarily affects the skin, eyes, and central nervous system. Diagnosis is typically based on characteristic clinical features and\/or molecular confirmation. Here we report a unique case of ECCL in a 12\u2010year\u2010old female with abdominal wall lipoma, ipsilateral lower limb overgrowth, and brachydactyly, in whom somatic mosaicism for\n                    <jats:italic>FGFR1<\/jats:italic>\n                    was identified using resected lipomatous tissue. Imaging studies confirmed additional spinal lipomas consistent with ECCL. This report expands the phenotypic spectrum of\n                    <jats:italic>FGFR1\u2010<\/jats:italic>\n                    ECCL and underscores the importance of tissue\u2010based somatic testing for diagnosis. Tumor risk is also discussed.\n                  <\/jats:p>","DOI":"10.1002\/ajmg.a.70137","type":"journal-article","created":{"date-parts":[[2026,3,20]],"date-time":"2026-03-20T01:45:36Z","timestamp":1773971136000},"page":"1862-1867","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["A Case of Encephalocraniocutaneous Lipomatosis (\n                    <scp>ECCL<\/scp>\n                    ) With Atypical Clinical Presentation Diagnosed on Molecular Testing:\n                    <i>FGFR1<\/i>\n                    <scp>ECCL<\/scp>\n                    Tumor Risk"],"prefix":"10.1002","volume":"200","author":[{"given":"Abhinav","family":"Thakral","sequence":"first","affiliation":[{"name":"Division of Medical Genetics and Genomics, Department of Pediatrics, Benioff Children's Hospital University of California San Francisco  Oakland California USA"},{"name":"Division of Medical Genetics and Genomics, Department of Pediatrics, Benioff Children's Hospital University of California San Francisco  San Francisco California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7200-4540","authenticated-orcid":false,"given":"Carmen Maria Avram","family":"Santoli","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics and Genomics, Department of Pediatrics, Benioff Children's Hospital University of California San Francisco  Oakland California USA"},{"name":"Division of Medical Genetics and Genomics, Department of Pediatrics, Benioff Children's Hospital University of California San Francisco  San Francisco California USA"},{"name":"Department of Obstetrics, Gynecology, &amp; Reproductive Sciences University of California San Francisco  San Francisco California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Olajire","family":"Idowu","sequence":"additional","affiliation":[{"name":"Department of Pediatric Surgery University of California San Francisco  Oakland California USA"},{"name":"Department of Pediatric Surgery University of California San Francisco  San Francisco California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christopher","family":"Dowd","sequence":"additional","affiliation":[{"name":"Department of Radiology and Biomedical Imaging University of California San Francisco  San Francisco California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5466-066X","authenticated-orcid":false,"given":"Rachel Louise","family":"Vassar","sequence":"additional","affiliation":[{"name":"Department of Neurology University of California San Francisco  San Francisco California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Walter Patrick","family":"Devine","sequence":"additional","affiliation":[{"name":"Department of Pathology University of California San Francisco  San Francisco California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7674-8937","authenticated-orcid":false,"given":"Jessica","family":"Van Ziffle","sequence":"additional","affiliation":[{"name":"Department of Pathology University of California San Francisco  San Francisco California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7305-5940","authenticated-orcid":false,"given":"Ilona J.","family":"Frieden","sequence":"additional","affiliation":[{"name":"Department of Dermatology University of California San Francisco  San Francisco California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Allison","family":"Tam","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics and Genomics, Department of Pediatrics, Benioff Children's Hospital University of California San Francisco  Oakland California USA"},{"name":"Division of Medical Genetics and Genomics, Department of Pediatrics, Benioff Children's Hospital University of California San Francisco  San Francisco California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joseph T.","family":"Shieh","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics and Genomics, Department of Pediatrics, Benioff Children's Hospital University of California San Francisco  Oakland California USA"},{"name":"Division of Medical Genetics and Genomics, Department of Pediatrics, Benioff Children's Hospital University of California San Francisco  San Francisco California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2026,3,19]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.64202"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2016.02.006"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.37017"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1177\/10935266211040802"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/mgg3.625"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1111\/ped.13288"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00062\u2010024\u201001389\u20100"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.61256"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1186\/s40478\u2010020\u201001027\u2010z"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2009.066068"},{"key":"e_1_2_9_12_1","volume-title":"GeneReviews","author":"Moog U.","year":"2022"},{"key":"e_1_2_9_13_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2005.031369"},{"key":"e_1_2_9_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32074"},{"key":"e_1_2_9_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.37048"},{"key":"e_1_2_9_16_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00401\u2010016\u20101616\u20103"},{"key":"e_1_2_9_17_1","doi-asserted-by":"publisher","DOI":"10.2340\/00015555\u20103358"},{"key":"e_1_2_9_18_1","doi-asserted-by":"publisher","DOI":"10.1200\/PO.21.00540"},{"key":"e_1_2_9_19_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00381\u2010011\u20101601\u2010z"},{"key":"e_1_2_9_20_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00401\u2010018\u20101898\u20108"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.70137","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/ajmg.a.70137","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.70137","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,7,2]],"date-time":"2026-07-02T16:29:42Z","timestamp":1783009782000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.70137"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,3,19]]},"references-count":19,"journal-issue":{"issue":"8","published-print":{"date-parts":[[2026,8]]}},"alternative-id":["10.1002\/ajmg.a.70137"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.70137","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,3,19]]},"assertion":[{"value":"2026-01-07","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2026-03-12","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2026-03-19","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}