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Clinical, Radiological and Molecular Genetic Findings in Six New Cases with Rothmund-Thomson Syndrome: Evidence for a Founder RECQL4 Variant.

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Title: Clinical, Radiological and Molecular Genetic Findings in Six New Cases with Rothmund-Thomson Syndrome: Evidence for a Founder RECQL4 Variant.
Transliterated Title: Klinische, radiologische und molekulargenetische Befunde bei sechs neuen Rothmund–Thomson-Syndrom-Fällen: Hinweis auf eine RECQL4-Gründermutation.
Authors: Genç A; Department of Pediatric Genetics, University of Health Sciences, Ankara Bilkent City Hospital, Ankara, Turkey., Şahiner N; Department of Dermatology, Private 19 May Hospital, Ankara, Turkey., Ceylan AC; Department of Medical Genetics, University of Health Sciences, Ankara Bilkent City Hospital, Ankara, Turkey.; Faculty of Medicine, Department of Medical Genetics, Ankara Yıldırım Beyazit University, Ankara, Turkey., Keceli M; Department of Pediatric Radiology, University of Health Sciences, Ankara Bilkent City Hospital, Ankara, Turkey., Kılıç E; Department of Pediatric Genetics, University of Health Sciences, Ankara Bilkent City Hospital, Ankara, Turkey.
Source: Klinische Padiatrie [Klin Padiatr] 2026 Feb 02. Date of Electronic Publication: 2026 Feb 02.
Publication Type: Journal Article
Journal Info: Publisher: Ferdinand Enke Verlag Country of Publication: Germany NLM ID: 0326144 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1439-3824 (Electronic) Linking ISSN: 03008630 NLM ISO Abbreviation: Klin Padiatr Subsets: MEDLINE
Database: MEDLINE Ultimate
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PubType: Academic Journal
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  Data: Clinical, Radiological and Molecular Genetic Findings in Six New Cases with Rothmund-Thomson Syndrome: Evidence for a Founder RECQL4 Variant.
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  Data: Klinische, radiologische und molekulargenetische Befunde bei sechs neuen Rothmund–Thomson-Syndrom-Fällen: Hinweis auf eine RECQL4-Gründermutation.
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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="%22Şahiner+N%22">Şahiner N</searchLink>; Department of Dermatology, Private 19 May Hospital, Ankara, Turkey.<br /><searchLink fieldCode="AU" term="%22Ceylan+AC%22">Ceylan AC</searchLink>; Department of Medical Genetics, University of Health Sciences, Ankara Bilkent City Hospital, Ankara, Turkey.; Faculty of Medicine, Department of Medical Genetics, Ankara Yıldırım Beyazit University, Ankara, Turkey.<br /><searchLink fieldCode="AU" term="%22Keceli+M%22">Keceli M</searchLink>; Department of Pediatric Radiology, University of Health Sciences, Ankara Bilkent City 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="%220326144%22">Klinische Padiatrie</searchLink> [Klin Padiatr] 2026 Feb 02. <i>Date of Electronic Publication: </i>2026 Feb 02.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Ferdinand+Enke+Verlag%22">Ferdinand Enke Verlag </searchLink><i>Country of Publication: </i>Germany <i>NLM ID: </i>0326144 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1439-3824 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2203008630%22">03008630 </searchLink><i>NLM ISO Abbreviation: </i>Klin Padiatr <i>Subsets: </i>MEDLINE
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        Value: 10.1055/a-2787-6211
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      – Code: eng
        Text: English
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      – TitleFull: Clinical, Radiological and Molecular Genetic Findings in Six New Cases with Rothmund-Thomson Syndrome: Evidence for a Founder RECQL4 Variant.
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            – D: 02
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              Text: 2026 Feb 02
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