{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,31]],"date-time":"2026-07-31T03:19:46Z","timestamp":1785467986614,"version":"3.56.0"},"reference-count":0,"publisher":"S. Karger AG","issue":"3","license":[{"start":{"date-parts":[[2024,1,1]],"date-time":"2024-01-01T00:00:00Z","timestamp":1704067200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/karger.com\/pages\/terms-and-conditions"},{"start":{"date-parts":[[2024,1,1]],"date-time":"2024-01-01T00:00:00Z","timestamp":1704067200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/karger.com\/pages\/terms-and-conditions"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Mol Syndromol"],"published-print":{"date-parts":[[2024]]},"abstract":"<jats:p>&lt;b&gt;&lt;i&gt;Introduction:&lt;\/i&gt;&lt;\/b&gt; Griscelli syndrome type 2 (GS2) and neurofibromatosis type 1 (NF1) are both rare genetic disorders, but their coexistence has not been documented prior to this report. &lt;b&gt;&lt;i&gt;Case Presentation:&lt;\/i&gt;&lt;\/b&gt; We present the case of a 4-year-old girl initially diagnosed with GS2 due to albinism and immunodeficiency, and later with NF1, manifested by the development of multiple caf\u00e9-au-lait macules (CALMs) and MRI findings. The patient was the second child of consanguineous parents and exhibited symptoms early, with silver-gray hair at birth and subsequent health complications at 9 months. GS2 was confirmed via the identification of a homozygous frameshift variant in the &lt;i&gt;RAB27A&lt;\/i&gt; gene, and a de novo heterozygous splice site mutation in the &lt;i&gt;NF1&lt;\/i&gt; gene established the NF1 diagnosis. Her treatment included hematopoietic stem cell transplantation and ongoing surveillance for NF1-associated complications. &lt;b&gt;&lt;i&gt;Discussion\/Conclusion:&lt;\/i&gt;&lt;\/b&gt; This case emphasizes the importance of considering the potential for concurrent rare genetic diseases in clinical evaluations, especially with progressive or evolving symptomatology. <\/jats:p>","DOI":"10.1159\/000536162","type":"journal-article","created":{"date-parts":[[2024,1,31]],"date-time":"2024-01-31T22:00:30Z","timestamp":1706738430000},"page":"247-250","source":"Crossref","is-referenced-by-count":3,"title":["First Co-Occurrence of Griscelli Syndrome Type 2 and Neurofibromatosis Type 1"],"prefix":"10.1159","volume":"15","author":[{"given":"Yasemin","family":"Kendir-Demirkol","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Burcu","family":"Yeter","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kanay","family":"Yararba\u015f","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"127","published-online":{"date-parts":[[2024,1,31]]},"container-title":["Molecular Syndromology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/karger.com\/msy\/article-pdf\/15\/3\/247\/4236730\/000536162.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/karger.com\/msy\/article-pdf\/15\/3\/247\/4236730\/000536162.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,23]],"date-time":"2025-04-23T16:04:56Z","timestamp":1745424296000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000536162"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024]]},"references-count":0,"journal-issue":{"issue":"3","published-online":{"date-parts":[[2024,6,4]]},"published-print":{"date-parts":[[2024,6,5]]}},"URL":"https:\/\/doi.org\/10.1159\/000536162","archive":["Portico"],"relation":{},"ISSN":["1661-8769","1661-8777"],"issn-type":[{"value":"1661-8769","type":"print"},{"value":"1661-8777","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024]]}}}