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Building platelet phenotypes: Diaphanous-related formin 1 (DIAPH1)-related disorder.

Platelets - 3 Apr 2022

Rabbolini David, Liang Hai Po Helena, Morel-Kopp Marie-Christine, Connor David, Whittaker Shane, Dunkley Scott, Donikian Dea, Kondo Mayuko, Chen Walter, Stevenson William S, Campbell Heather, Joseph Joanne, Ward Christopher, Brighton Timothy, Chen Vivien M

Abstract excerpt

Variants of the Diaphanous-Related Formin 1 (DIAPH-1) gene have recently been reported causing inherited macrothrombocytopenia. The essential/"diagnostic" characteristics associated with the disorder are emerging; however, robust and complete criteria are not established. Here, we report the first cases of DIAPH1-related disorder in Australia caused by the autosomal dominant gain-of-function DIAPH1 R1213X variant...

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PMID: 34223798
DOI: 10.1080/09537104.2021.1937593

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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