Heterozygous RUNX1-gene deletion in a patient with mild thrombocytopenia and a platelet granule secretion defect-Reference-Cited by-同舟云学术

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Heterozygous RUNX1-gene deletion in a patient with mild thrombocytopenia and a platelet granule secretion defect

Published:2024-02 Issue: Volume: Page:
ISSN:2567-5761
Container-title:Hämostaseologie
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Author:

Glonnegger H.¹,Boeckelmann D.¹,Koehler U.²,Wolter M.¹,Erlacher M.¹,Sparber-Sauer M.³⁴,Zieger B.¹

Affiliation:

1. Medical Center University of Freiburg, Department of Pediatric and Adolescent Medicine, Freiburg, Germany

2. MGZ, Medical Genetics Center, Munich, Germany

3. Klinikum der Landeshauptstadt Stuttgart, Zentrum für Kinder-,Jugend- und Frauenmedizin, Stuttgart, Germany

4. University of Medicine Tübingen, Medical Faculty, Tübingen, Germany

Publisher

Georg Thieme Verlag

Reference2 articles.

1. Haematological spectrum and genotype-phenotype correlations in nine unrelated families with RUNX1 mutations from the French network on inherited platelet disorders;V. Latger-Cannard;Orphanet J Rare Dis,2016

2. ClinGen Myeloid Malignancy Variant Curation Expert Panel recommendations for germline RUNX1 variants;X. Luo;Blood Adv,2019

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