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Scott syndrome with novel compound heterozygous pathogenic variants in ANO6 and reduced thrombin generation

Year: 2026
Type: article
Abstract: Not available.
DOI: 10.3324/haematol.2025.300111
Authors: Amna Ahmed, Samantha J. Montague, Hrushikesh Vyas, Jayna Mistry, Natasha J. Pavey, Sophie R.M. Smith, Liam Griffith, Isobel Clothier, Roseanne Hudson, Emma Faulkner, Richard Buka, Patricia Bignell, Carl Fratter, Kathryn Marshall, Ben Bailiff, Natalie S. Poulter, Bas De Laat, Dana Huskens, Gillian C. Lowe, Steven G. Thomas, Neil V. Morgan
Institutions: University of Birmingham, Oxford University Hospitals NHS Trust, University Hospital Coventry, University Hospitals Coventry and Warwickshire NHS Trust, Synapse (Netherlands), University Hospitals Birmingham NHS Foundation Trust
Language: English
Subfield: Hematology
Field: Medicine
Open Access status: gold
Estimated APC paid: $2,157
Funders: Cancer Research UK, National Institute for Health and Care Research, British Heart Foundation, University of Birmingham, University Hospitals Coventry and Warwickshire NHS Trust, Birmingham Biomedical Research Centre
Awards: G1070500708, G1590412184, G2350218693, G32056436, The molecular basis of variation in response to platelet activation by FcγRIIA: implications for the risk of thrombosis, Determining the roles of SLFN14 in platelet biogenesis, haemostasis and thrombosis, Investigating the role of SLFN14 in megakaryocyte and platelet biology
OpenAlex ID: W7131674099
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