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We present a patient with a germline likely pathogenic variant in\n                    <jats:italic>CBL<\/jats:italic>\n                    with ten caf\u00e9 au lait macules and a recurrent granular cell tumor. Granular cell tumors have not been described in this condition. This case broadens the recognized clinical spectrum of\n                    <jats:italic>CBL<\/jats:italic>\n                    syndrome and challenges the existing genetic testing approach for patients with greater than six caf\u00e9 au lait macules.\n                  <\/jats:p>","DOI":"10.1002\/ajmg.a.70165","type":"journal-article","created":{"date-parts":[[2026,4,11]],"date-time":"2026-04-11T03:56:13Z","timestamp":1775879773000},"page":"2106-2109","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["<scp>CBL<\/scp>\n                    Syndrome With Granular Cell Tumor and caf\u00e9 au lait macules: Expansion of the Phenotype"],"prefix":"10.1002","volume":"200","author":[{"ORCID":"https:\/\/orcid.org\/0009-0009-0589-0915","authenticated-orcid":false,"given":"Caitlin N.","family":"Harrington","sequence":"first","affiliation":[{"name":"Department of Pediatrics, Division of Medical Genetics Stanford University  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