Associated Papers
Rare germline ETV6 variant associated with thrombocytopenia and acute leukemia.
Rajendra Kurup A et al.
Annals of Hematology, 2025
Newborn screening algorithm distinguishing potential symptomatic isovaleric acidemia from asymptomatic newborns.
Rock R et al.
Journal of Inherited Metabolic Disease, 2025
Platelet expression of the transcription factor ETV6 associates with ETV6-related thrombocytopenia and can be detected by immunofluorescence on the blood film.
Zaninetti C et al.
British Journal of Haematology, 2024
Novel phenotypes observed in patients with ETV6-linked leukaemia/familial thrombocytopenia syndrome and a biallelic ARID5B risk allele as leukaemogenic cofactor.
Karastaneva A et al.
Journal of Medical Genetics, 2020
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