Clinical and Molecular Portraits of Pediatric RASopathies: A Study of 118 Genotype-Confirmed Cases.

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Title: Clinical and Molecular Portraits of Pediatric RASopathies: A Study of 118 Genotype-Confirmed Cases.
Authors: Genç A; Department of Pediatric Genetics, University of Health Sciences, Ankara Bilkent City Hospital, Ankara, Turkey., Sarıkaya E; Department of Pediatrics, University of Health Sciences, Ankara Bilkent City Hospital, Ankara, Turkey., Ceylan AC; Faculty of Medicine, Department of Medical Genetics, Ankara Yıldırım Beyazit University, Ankara, Turkey.; Department of Medical Genetics, Ankara Bilkent City Hospital, Ankara, Turkey., Çavdarlı B; Faculty of Medicine, Department of Medical Genetics, Ankara Yıldırım Beyazit University, Ankara, Turkey.; Department of Medical Genetics, Ankara Bilkent City Hospital, Ankara, Turkey., Çetin İİ; Department of Pediatric Cardiology, University of Health Sciences, Ankara Bilkent City Hospital, Ankara, Turkey., Erdoğan İ; Department of Pediatric Cardiology, Başkent University Ankara Hospital, Ankara, Turkey., Kılıç E; Department of Pediatric Genetics, University of Health Sciences, Ankara Bilkent City Hospital, Ankara, Turkey.
Source: Clinical genetics [Clin Genet] 2026 Sep; Vol. 110 (3), pp. 299-314. Date of Electronic Publication: 2026 Jun 09.
Publication Type: Journal Article
Journal Info: Publisher: Munksgaard Country of Publication: Denmark NLM ID: 0253664 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1399-0004 (Electronic) Linking ISSN: 00099163 NLM ISO Abbreviation: Clin Genet Subsets: MEDLINE
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  Data: Clinical and Molecular Portraits of Pediatric RASopathies: A Study of 118 Genotype-Confirmed Cases.
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  Data: <searchLink fieldCode="AU" term="%22Genç+A%22">Genç A</searchLink>; Department of Pediatric Genetics, University of Health Sciences, Ankara Bilkent City Hospital, Ankara, Turkey.<br /><searchLink fieldCode="AU" term="%22Sarıkaya+E%22">Sarıkaya E</searchLink>; Department of Pediatrics, University of Health Sciences, Ankara Bilkent City Hospital, Ankara, Turkey.<br /><searchLink fieldCode="AU" term="%22Ceylan+AC%22">Ceylan AC</searchLink>; Faculty of Medicine, Department of Medical Genetics, Ankara Yıldırım Beyazit University, Ankara, Turkey.; Department of Medical Genetics, Ankara Bilkent City Hospital, Ankara, Turkey.<br /><searchLink fieldCode="AU" term="%22Çavdarlı+B%22">Çavdarlı B</searchLink>; Faculty of Medicine, Department of Medical Genetics, Ankara Yıldırım Beyazit University, Ankara, Turkey.; Department of Medical Genetics, Ankara Bilkent City Hospital, Ankara, Turkey.<br /><searchLink fieldCode="AU" term="%22Çetin+İİ%22">Çetin İİ</searchLink>; Department of Pediatric Cardiology, University of Health Sciences, Ankara Bilkent City Hospital, Ankara, Turkey.<br /><searchLink fieldCode="AU" term="%22Erdoğan+İ%22">Erdoğan İ</searchLink>; Department of Pediatric Cardiology, Başkent University Ankara Hospital, Ankara, Turkey.<br /><searchLink fieldCode="AU" term="%22Kılıç+E%22">Kılıç E</searchLink>; Department of Pediatric Genetics, University of Health Sciences, Ankara Bilkent City Hospital, Ankara, Turkey.
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  Data: <searchLink fieldCode="JN" term="%220253664%22">Clinical genetics</searchLink> [Clin Genet] 2026 Sep; Vol. 110 (3), pp. 299-314. <i>Date of Electronic Publication: </i>2026 Jun 09.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Munksgaard%22">Munksgaard </searchLink><i>Country of Publication: </i>Denmark <i>NLM ID: </i>0253664 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1399-0004 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2200099163%22">00099163 </searchLink><i>NLM ISO Abbreviation: </i>Clin Genet <i>Subsets: </i>MEDLINE
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      – TitleFull: Clinical and Molecular Portraits of Pediatric RASopathies: A Study of 118 Genotype-Confirmed Cases.
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              Text: 2026 Sep
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