In this issue of Blood, Lentaigne et al identified novel pathogenetic missense mutations in the IKAROS family zinc finger 5 (IKZF5) gene that were associated with isolated thrombocytopenia in 3 pedigrees, affecting a total of 20 individuals and representing de novo mutations also associated with isolated thrombocytopenia in 3 individuals from 2 pedigrees.
Pegasus causes inherited thrombocytopenia / Vannucchi, A.M.. - In: BLOOD. - ISSN 0006-4971. - ELETTRONICO. - 134:(2019), pp. 2000-2002. [10.1182/blood.2019002181]
Pegasus causes inherited thrombocytopenia
Vannucchi, Alessandro M.
2019
Abstract
In this issue of Blood, Lentaigne et al identified novel pathogenetic missense mutations in the IKAROS family zinc finger 5 (IKZF5) gene that were associated with isolated thrombocytopenia in 3 pedigrees, affecting a total of 20 individuals and representing de novo mutations also associated with isolated thrombocytopenia in 3 individuals from 2 pedigrees.
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