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Article

Intermittent macrothrombocytopenia in a novel patient with Takenouchi-Kosaki syndrome and review of literature.

European journal of medical genetics - 1 Dec 2021

Santoro Claudia, Gaudino Giuseppina, Torella Annalaura, Piluso Giulio, Perrotta Silverio, Miraglia Del Giudice Emanuele, Nigro Vincenzo, Grandone Anna

Abstract excerpt

Takenouchi-Kosaki syndrome (TKS) is a recently delineated syndromic form of thrombocytopenia strictly related to an hot-spot missense variant, p.Tyr64Cys, in CDC42 (Cell Division Control protein 42). Herein we report an additional patient with the p.Tyr64Cys aminoacidic substitution who showed the well-defined phenotypical TKS features and an intermittent, very mild, macrothrombocytopenia at 10.7 years of age...

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Identifiers

PMID: 34624555
DOI: 10.1016/j.ejmg.2021.104358

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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