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Alexandra Satty

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Sep 2026

A Novel Pathogenic Variant in RTEL1 Causes Dyskeratosis Congenita/Hoyeraal-Hreidarsson Syndrome: A Report of Two Cases.

BACKGROUND Telomere biology disorders (TBD) are a spectrum of conditions that result from shortened or dysfunctional telomeres. Dyskeratosis congenita (DC) is the prototypic TBD, classically presenting with leukoplakia, dysplastic nails, and reticular skin pigmentation. Immunologic abnormalities are common, and severe...

Michelle Nash, Alexandra Satty, Ariella Reiter et al. · 0 citations

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