Molecular Genetic Confirmation of Jaffe-Campanacci Syndrome: A Case Report of the Third Identified Pathogenic NF1 Variant.
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| Title: | Molecular Genetic Confirmation of Jaffe-Campanacci Syndrome: A Case Report of the Third Identified Pathogenic NF1 Variant. |
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| Authors: | Kolkiran A; Department of Pediatric Genetics, Ankara Etlik City Hospital, Ankara Etlik, Turkey., Bir FD; Department of Medical Genetics, Ankara Etlik City Hospital, Ankara Etlik, Turkey., Ergün BA; Department of Pediatric Radiology, Ankara Etlik City Hospital, Ankara Etlik, Turkey., Daylak A; Department of Orthopaedics and Traumatology, Ankara Etlik City Hospital, Ankara Etlik, Turkey., Citirik M; Departmant of Ophthalmology, University of Health Sciences, Ankara Etlik City Hospital, Ankara, Turkey., Kulalı MA; Department of Pediatric Genetics, Ankara Etlik City Hospital, Ankara Etlik, Turkey. |
| Source: | Molecular syndromology [Mol Syndromol] 2026 Apr 01. Date of Electronic Publication: 2026 Apr 01. |
| Publication Type: | Journal Article |
| Journal Info: | Publisher: S. Karger Country of Publication: Switzerland NLM ID: 101525192 Publication Model: Print-Electronic Cited Medium: Print ISSN: 1661-8769 (Print) Linking ISSN: 16618769 NLM ISO Abbreviation: Mol Syndromol |
| Database: | MEDLINE Ultimate |
| ISSN: | 1661-8769 |
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| DOI: | 10.1159/000551849 |
