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

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Title: Scott syndrome with novel compound heterozygous pathogenic variants in ANO6 and reduced thrombin generation.
Authors: Ahmed A; Department of Cardiovascular Sciences, School of Medical Sciences, College of Medicine and Health, University of Birmingham, Birmingham., Montague SJ; Department of Cardiovascular Sciences, School of Medical Sciences, College of Medicine and Health, University of Birmingham, Birmingham., Vyas H; Department of Cardiovascular Sciences, School of Medical Sciences, College of Medicine and Health, University of Birmingham, Birmingham., Mistry J; Department of Cardiovascular Sciences, School of Medical Sciences, College of Medicine and Health, University of Birmingham, Birmingham., Pavey NJ; Department of Cardiovascular Sciences, School of Medical Sciences, College of Medicine and Health, University of Birmingham, Birmingham., Smith SRM; Department of Cardiovascular Sciences, School of Medical Sciences, College of Medicine and Health, University of Birmingham, Birmingham., Griffith L; Department of Cardiovascular Sciences, School of Medical Sciences, College of Medicine and Health, University of Birmingham, Birmingham., Clothier I; Department of Cardiovascular Sciences, School of Medical Sciences, College of Medicine and Health, University of Birmingham, Birmingham., Hudson R; Department of Cardiovascular Sciences, School of Medical Sciences, College of Medicine and Health, University of Birmingham, Birmingham., Faulkner E; Department of Cardiovascular Sciences, School of Medical Sciences, College of Medicine and Health, University of Birmingham, Birmingham., Buka R; Department of Cardiovascular Sciences, School of Medical Sciences, College of Medicine and Health, University of Birmingham, Birmingham., Bignell P; Oxford Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, Oxford., Fratter C; Oxford Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, Oxford., Marshall K; Department of Haematology, University Hospitals Coventry and Warwickshire, Coventry., Bailiff B; Department of Haematology, University Hospitals Coventry and Warwickshire, Coventry., Poulter NS; Department of Cardiovascular Sciences, School of Medical Sciences, College of Medicine and Health, University of Birmingham, Birmingham., De Laat B; Synapse Research Institute, Maastricht., Huskens D; Synapse Research Institute, Maastricht., Lowe GC; Comprehensive Care Haemophilia Centre, University Hospital Birmingham NHS Foundation Trust, Birmingham., Thomas SG; Department of Cardiovascular Sciences, School of Medical Sciences, College of Medicine and Health, University of Birmingham, Birmingham., Morgan NV; Department of Cardiovascular Sciences, School of Medical Sciences, College of Medicine and Health, University of Birmingham, Birmingham. N.V.Morgan@bham.ac.uk.
Source: Haematologica [Haematologica] 2026 Feb 26. Date of Electronic Publication: 2026 Feb 26.
Publication Type: Journal Article
Journal Info: Publisher: Ferrata Storti Foundation Country of Publication: Italy NLM ID: 0417435 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1592-8721 (Electronic) Linking ISSN: 03906078 NLM ISO Abbreviation: Haematologica Subsets: MEDLINE
Database: MEDLINE Ultimate
Description
ISSN:1592-8721
DOI:10.3324/haematol.2025.300111