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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
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  Data: Scott syndrome with novel compound heterozygous pathogenic variants in ANO6 and reduced thrombin generation.
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  Data: <searchLink fieldCode="AU" term="%22Ahmed+A%22">Ahmed A</searchLink>; Department of Cardiovascular Sciences, School of Medical Sciences, College of Medicine and Health, University of Birmingham, Birmingham.<br /><searchLink fieldCode="AU" term="%22Montague+SJ%22">Montague SJ</searchLink>; Department of Cardiovascular Sciences, School of Medical Sciences, College of Medicine and Health, University of Birmingham, Birmingham.<br /><searchLink fieldCode="AU" term="%22Vyas+H%22">Vyas H</searchLink>; Department of Cardiovascular Sciences, School of Medical Sciences, College of Medicine and Health, University of Birmingham, Birmingham.<br /><searchLink fieldCode="AU" term="%22Mistry+J%22">Mistry J</searchLink>; Department of Cardiovascular Sciences, School of Medical Sciences, College of Medicine and Health, University of Birmingham, Birmingham.<br /><searchLink fieldCode="AU" term="%22Pavey+NJ%22">Pavey NJ</searchLink>; Department of Cardiovascular Sciences, School of Medical Sciences, College of Medicine and Health, University of Birmingham, Birmingham.<br /><searchLink fieldCode="AU" term="%22Smith+SRM%22">Smith SRM</searchLink>; Department of Cardiovascular Sciences, School of Medical Sciences, College of Medicine and Health, University of Birmingham, Birmingham.<br /><searchLink fieldCode="AU" term="%22Griffith+L%22">Griffith L</searchLink>; Department of Cardiovascular Sciences, School of Medical Sciences, College of Medicine and Health, University of Birmingham, Birmingham.<br /><searchLink fieldCode="AU" term="%22Clothier+I%22">Clothier I</searchLink>; Department of Cardiovascular Sciences, School of Medical Sciences, College of Medicine and Health, University of Birmingham, Birmingham.<br /><searchLink fieldCode="AU" term="%22Hudson+R%22">Hudson R</searchLink>; Department of Cardiovascular Sciences, School of Medical Sciences, College of Medicine and Health, University of Birmingham, Birmingham.<br /><searchLink fieldCode="AU" term="%22Faulkner+E%22">Faulkner E</searchLink>; Department of Cardiovascular Sciences, School of Medical Sciences, College of Medicine and Health, University of Birmingham, Birmingham.<br /><searchLink fieldCode="AU" term="%22Buka+R%22">Buka R</searchLink>; Department of Cardiovascular Sciences, School of Medical Sciences, College of Medicine and Health, University of Birmingham, Birmingham.<br /><searchLink fieldCode="AU" term="%22Bignell+P%22">Bignell P</searchLink>; Oxford Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, Oxford.<br /><searchLink fieldCode="AU" term="%22Fratter+C%22">Fratter C</searchLink>; Oxford Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, Oxford.<br /><searchLink fieldCode="AU" term="%22Marshall+K%22">Marshall K</searchLink>; Department of Haematology, University Hospitals Coventry and Warwickshire, Coventry.<br /><searchLink fieldCode="AU" term="%22Bailiff+B%22">Bailiff B</searchLink>; Department of Haematology, University Hospitals Coventry and Warwickshire, Coventry.<br /><searchLink fieldCode="AU" term="%22Poulter+NS%22">Poulter NS</searchLink>; Department of Cardiovascular Sciences, School of Medical Sciences, College of Medicine and Health, University of Birmingham, Birmingham.<br /><searchLink fieldCode="AU" term="%22De+Laat+B%22">De Laat B</searchLink>; Synapse Research Institute, Maastricht.<br /><searchLink fieldCode="AU" term="%22Huskens+D%22">Huskens D</searchLink>; Synapse Research Institute, Maastricht.<br /><searchLink fieldCode="AU" term="%22Lowe+GC%22">Lowe GC</searchLink>; Comprehensive Care Haemophilia Centre, University Hospital Birmingham NHS Foundation Trust, Birmingham.<br /><searchLink fieldCode="AU" term="%22Thomas+SG%22">Thomas SG</searchLink>; Department of Cardiovascular Sciences, School of Medical Sciences, College of Medicine and Health, University of Birmingham, Birmingham.<br /><searchLink fieldCode="AU" term="%22Morgan+NV%22">Morgan NV</searchLink>; Department of Cardiovascular Sciences, School of Medical Sciences, College of Medicine and Health, University of Birmingham, Birmingham. N.V.Morgan@bham.ac.uk.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Ferrata+Storti+Foundation%22">Ferrata Storti Foundation </searchLink><i>Country of Publication: </i>Italy <i>NLM ID: </i>0417435 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1592-8721 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2203906078%22">03906078 </searchLink><i>NLM ISO Abbreviation: </i>Haematologica <i>Subsets: </i>MEDLINE
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        Value: 10.3324/haematol.2025.300111
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        Text: English
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              Text: 2026 Feb 26
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