Work

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

Year: 2026

Type: article

Study design: Case Report

Source: Klinische Pädiatrie

DOI: 10.1055/a-2787-6211

Authors: Aslı Genç, Neriman Şahiner, Ahmet Cevdet Ceylan, Merter Keceli, Esra Kılıç

Institutions: Sağlık Bilimleri Üniversitesi, Ankara Bilkent City Hospital, Ankara Yıldırım Beyazıt University

Language: German

Topic: Genetic and rare skin diseases.

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: closed

OpenAlex ID: W7127341047

FWCI:

Cites: 16

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