Browsing Centre for Genomics and Child Health by Author "Yarali, N"
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Homozygous OB-fold variants in telomere protein TPP1 are associated with dyskeratosis congenita-like phenotypes
Tummala, H; Collopy, LC; Walne, AJ; Ellison, A; Cardoso, S; Aksu, T; Yarali, N; Aslan, D; Akata, RF; Teo, J (2018-09-20) -
homozygous OB-fold variants in telomere protein TPP1 are associated with dyskeratosis congenita-like phenotypes
Tummala, H; Collopy, LC; Walne, AJ; Ellison, A; Cardoso, S; Aksu, T; Yarali, N; Aslan, D; Akata, RF; Teo, J (American Society of Hematology, 2018-09-20)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, ...