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Article

Phenotypic and genotypic evaluation of bleeding diagnostic dilemmas: Two case studies.

Blood cells, molecules & diseases - 1 Feb 2025

Gu Sean X, Butt Ayesha, Schulz Vincent P, Rinder Henry M, Lee Alfred I, Gallagher Patrick G, Hwa John, Bona Robert D

Abstract excerpt

Inherited platelet disorders (IPDs) are a heterogeneous group of conditions that present significant challenges in diagnosis and management. Here, we report two cases of patients presenting with clinically significant bleeding but with unclear etiologies by conventional clinical laboratory testing. Further evaluation, utilizing a combination of high-dimensional multiplexed mass cytometry and genetic sequencing,...

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PMID: 39260211
DOI: 10.1016/j.bcmd.2024.102893

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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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