Myelodysplasia and liver disease extend the spectrum of RTEL1 related telomeropathies
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DOI: 10.3324/haematol.2017.167056
Abstract: 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… read more here.
Keywords: disease extend; extend spectrum; spectrum rtel1; rtel1 ... See more keywords