Concepedia

Monoallelic loss-of-function THPO variants cause heritable thrombocytopenia

Naomi Cornish, M. Riyaad Aungraheeta, Lucy Fitzgibbon, Kate Burley, Dominic Alibhai, Janine Collins, Daniel Greene, Kate Downes, Sarah K. Westbury, Ernest Turro,

Blood Advances · 2020 · 21 citations · 19 references

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Abstract

Key Points We report rare monoallelic variants of THPO that alter intracellular trafficking and diminish thrombopoietin secretion. Affected cases have autosomal-dominant thrombocytopenia but no other hematological features.

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