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. |
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| 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 |
| ISSN: | 1439-3824 |
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| DOI: | 10.1055/a-2787-6211 |
