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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.
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
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  Data: Molecular Genetic Confirmation of Jaffe-Campanacci Syndrome: A Case Report of the Third Identified Pathogenic NF1 Variant.
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  Data: <searchLink fieldCode="AU" term="%22Kolkiran+A%22">Kolkiran A</searchLink>; Department of Pediatric Genetics, Ankara Etlik City Hospital, Ankara Etlik, Turkey.<br /><searchLink fieldCode="AU" term="%22Bir+FD%22">Bir FD</searchLink>; Department of Medical Genetics, Ankara Etlik City Hospital, Ankara Etlik, Turkey.<br /><searchLink fieldCode="AU" term="%22Ergün+BA%22">Ergün BA</searchLink>; Department of Pediatric Radiology, Ankara Etlik City Hospital, Ankara Etlik, Turkey.<br /><searchLink fieldCode="AU" term="%22Daylak+A%22">Daylak A</searchLink>; Department of Orthopaedics and Traumatology, Ankara Etlik City Hospital, Ankara Etlik, Turkey.<br /><searchLink fieldCode="AU" term="%22Citirik+M%22">Citirik M</searchLink>; Departmant of Ophthalmology, University of Health Sciences, Ankara Etlik City Hospital, Ankara, Turkey.<br /><searchLink fieldCode="AU" term="%22Kulalı+MA%22">Kulalı MA</searchLink>; Department of Pediatric Genetics, Ankara Etlik City Hospital, Ankara Etlik, Turkey.
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  Data: <searchLink fieldCode="JN" term="%22101525192%22">Molecular syndromology</searchLink> [Mol Syndromol] 2026 Apr 01. <i>Date of Electronic Publication: </i>2026 Apr 01.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22S%2E+Karger%22">S. Karger </searchLink><i>Country of Publication: </i>Switzerland <i>NLM ID: </i>101525192 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Print <i>ISSN: </i>1661-8769 (Print) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2216618769%22">16618769 </searchLink><i>NLM ISO Abbreviation: </i>Mol Syndromol
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      – Type: doi
        Value: 10.1159/000551849
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      – Code: eng
        Text: English
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      – TitleFull: Molecular Genetic Confirmation of Jaffe-Campanacci Syndrome: A Case Report of the Third Identified Pathogenic NF1 Variant.
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            NameFull: Kolkiran A
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            NameFull: Bir FD
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            – D: 01
              M: 04
              Text: 2026 Apr 01
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              Y: 2026
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