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Regulator of telomere elongation helicase 1 (RTEL1) is a DNA helicase involved in telomere maintenance.[1][1],[2][2] Germline biallelic RTEL1 variants have been previously reported in a subset of patients with dyskeratosis congenita (DC) and its severe variant Hoyeraal-Hreidarsson syndrome (HH).[3][

Myelodysplasia and liver disease extend the spectrum of RTEL1 related telomeropathies