Management of pregnancy for a patient with the new syndromic macrothrombocytopenia, DIAPH1-related disease.

doi:10.1080/09537104.2018.1492710

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Article

Management of pregnancy for a patient with the new syndromic macrothrombocytopenia, DIAPH1-related disease.

Platelets - 1 Nov 2018

Nurden Paquita, Nurden Alan, Favier Rémi, Gleyze Matthieu

Abstract excerpt

The number of genes involved in the identification of macrothrombocytopenia (MTP) is growing but the clinical consequences for the affected patients are not well determined. Here, we report the management of the bleeding risk for a patient with the newly reported and rare DIAPH1-related disease during surgery for infertility and then during her subsequent pregnancy. The R1213* DIAPH1 variant responsible for a...

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Identifiers

PMID: 29985732
DOI: 10.1080/09537104.2018.1492710

Genes

DIAPH1

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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.