Homozygous OB-fold variants in telomere protein TPP1 are associated with dyskeratosis congenita-like phenotypes.

Hemanth Tummala,Laura C Collopy,Amanda J Walne,Alicia Ellison,Shirleny Cardoso,Tekin Aksu,Nese Yarali,Deniz Aslan,Rüştü Fikret Akata,Juliana Teo,Zhou Songyang,Nikolas Pontikos,Jude Fitzgibbon,Kazunori Tomita,Tom Vulliamy,Inderjeet Dokal

Blood（2018）

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TO THE EDITOR:Dyskeratosis congenita (DC) and its severe form, Hoyeraal-Hreidarsson syndrome (HHS), are rare and have life-threatening failure of hematopoiesis. Typically, DC patients present with disease features such as nail dystrophy, oral leukoplakia, and abnormal skin pigmentation along with

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