Familial Immune Thrombocytopenia Associated With a Novel Variant in IKZF1

We report a novel variant in IKZF1 associated with IKAROS haploinsufficiency in a patient with familial immune thrombocytopenia (ITP). IKAROS, encoded by the IKZF1 gene, is a hematopoietic zinc-finger transcription factor that can directly bind to DNA. We show that the identified IKZF1 variant (p.Hi...

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Detalhes bibliográficos
Publicado no:Front Pediatr
Main Authors: Sriaroon, Panida, Chang, Yenhui, Ujhazi, Boglarka, Csomos, Krisztian, Joshi, Hemant R., Zhou, Qin, Close, Devin W., Walter, Jolan E., Kumánovics, Attila
Formato: Artigo
Idioma:Inglês
Publicado em: Frontiers Media S.A. 2019
Assuntos:
Pediatrics
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6491668/
https://ncbi.nlm.nih.gov/pubmed/31069201
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fped.2019.00139
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