{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,5]],"date-time":"2026-03-05T20:31:51Z","timestamp":1772742711803,"version":"3.50.1"},"reference-count":36,"publisher":"S. Karger AG","issue":"3","license":[{"start":{"date-parts":[[2019,1,1]],"date-time":"2019-01-01T00:00:00Z","timestamp":1546300800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2019,1,1]],"date-time":"2019-01-01T00:00:00Z","timestamp":1546300800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Pediatr Neurosurg"],"published-print":{"date-parts":[[2019]]},"abstract":"<jats:p>Schimmelpenning syndrome is a rare, well-defined constellation of clinical phenotypes associated with the presence of nevus sebaceous&lt;b&gt;&lt;i&gt;&lt;\/i&gt;&lt;\/b&gt; and multisystem abnormalities most commonly manifested as cerebral, ocular, and skeletal defects [&lt;xref ref-type=\"bibr\" rid=\"ref1\"&gt;1&lt;\/xref&gt;]. A single nucleotide mutation in the &lt;i&gt;HRAS&lt;\/i&gt; or &lt;i&gt;KRAS&lt;\/i&gt; genes resulting in genetic mosaicism is responsible for the clinical manifestations of this syndrome in the majority of cases. We report a case of an adolescent boy with Schimmelpenning syndrome with a multifocal pilocytic astrocytoma. No &lt;i&gt;HRAS&lt;\/i&gt; or &lt;i&gt;KRAS&lt;\/i&gt; gene mutations were noted in the tumor on genetic sequencing. However, glial tumors have been associated with genetic mutations of RAS upregulation, which may imply a common pathway.<\/jats:p>","DOI":"10.1159\/000497149","type":"journal-article","created":{"date-parts":[[2019,3,20]],"date-time":"2019-03-20T22:00:32Z","timestamp":1553119232000},"page":"201-206","source":"Crossref","is-referenced-by-count":5,"title":["Is Schimmelpenning Syndrome Associated with Intracranial Tumors? 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