Hereditary platelet disorders associated with germ line variants in RUNX1, ETV6, and ANKRD26

[Display omitted] Hereditary platelet disorders (HPDs) are a group of blood disorders with variable severity and clinical impact. Although phenotypically there is much overlap, known genetic causes are many, prompting the curation of multigene panels for clinical use, which are being deployed in inc...

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Veröffentlicht in:	Blood 2023-03, Vol.141 (13), p.1533-1543
Hauptverfasser:	Homan, Claire C., Scott, Hamish S., Brown, Anna L.
Format:	Artikel
Sprache:	eng
Schlagworte:	Blood Platelet Disorders - genetics Core Binding Factor Alpha 2 Subunit - genetics Genetic Predisposition to Disease Germ Cells Germ-Line Mutation Hematologic Neoplasms - genetics Humans Intercellular Signaling Peptides and Proteins - genetics
Online-Zugang:	Volltext
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