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A three generation family with VACTERL association is found to have a rare form of diamond-blackfan anaemia.

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Title: A three generation family with VACTERL association is found to have a rare form of diamond-blackfan anaemia.
Authors: Leshchynska I; Victor Chang Cardiac Research Institute, Sydney, NSW, Australia.; University of New South Wales, Sydney, NSW, Australia., Das D; Victor Chang Cardiac Research Institute, Sydney, NSW, Australia.; University of New South Wales, Sydney, NSW, Australia., O'Reilly V; Victor Chang Cardiac Research Institute, Sydney, NSW, Australia.; University of New South Wales, Sydney, NSW, Australia., Sipka A; Victor Chang Cardiac Research Institute, Sydney, NSW, Australia.; University of New South Wales, Sydney, NSW, Australia., Iyer K; Victor Chang Cardiac Research Institute, Sydney, NSW, Australia.; University of New South Wales, Sydney, NSW, Australia., Alankarage D; Victor Chang Cardiac Research Institute, Sydney, NSW, Australia.; University of New South Wales, Sydney, NSW, Australia., Rath E; Victor Chang Cardiac Research Institute, Sydney, NSW, Australia.; University of New South Wales, Sydney, NSW, Australia., Kumar A; School of Chemistry and Molecular Biosciences, University of Queensland, Brisbane, QLD, Australia., Kurt BA; Corewell Health Helen DeVos Children's Hospital, Pediatric Hematology Oncology, Grand Rapids, MI, USA., Voydanoff ME; Corewell Health Helen DeVos Children's Hospital, Pediatric Hematology Oncology, Grand Rapids, MI, USA., Stevenson RE; J. C. Self Research Institute of Human Genetics, Greenwood Genetic Center, Greenwood, SC, USA., Winlaw DS; Ann and Robert H. Lurie Children's Hospital of Chicago, Chicago, IL, USA.; Feinberg School of Medicine Northwestern University, Chicago, IL, USA., Ascher DB; School of Chemistry and Molecular Biosciences, University of Queensland, Brisbane, QLD, Australia.; Computational Biology and Clinical Informatics, Baker Heart and Diabetes Institute, Melbourne, VIC, Australia., Giannoulatou E; Victor Chang Cardiac Research Institute, Sydney, NSW, Australia.; School of Clinical Medicine, Faculty of Medicine and Health, University of New South Wales, Sydney, NSW, Australia., Mark PR; Corewell Health, Helen DeVos Children's Hospital, Medical Genetics and Genomics, Grand Rapids, MI, USA., Dunwoodie SL; Victor Chang Cardiac Research Institute, Sydney, NSW, Australia.; School of Clinical Medicine, Faculty of Medicine and Health, University of New South Wales, Sydney, NSW, Australia., Chapman G; Victor Chang Cardiac Research Institute, Sydney, NSW, Australia. g.chapman@victorchang.edu.au.; School of Clinical Medicine, Faculty of Medicine and Health, University of New South Wales, Sydney, NSW, Australia. g.chapman@victorchang.edu.au.
Corporate Authors: Congenital Heart Disease Synergy Study group
Source: European journal of human genetics : EJHG [Eur J Hum Genet] 2026 May; Vol. 34 (5), pp. 619-629. Date of Electronic Publication: 2026 Mar 18.
Publication Type: Journal Article; Case Reports
Journal Info: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-5438 (Electronic) Linking ISSN: 10184813 NLM ISO Abbreviation: Eur J Hum Genet Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: A three generation family with VACTERL association is found to have a rare form of diamond-blackfan anaemia.
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  Data: <searchLink fieldCode="AU" term="%22Leshchynska+I%22">Leshchynska I</searchLink>; Victor Chang Cardiac Research Institute, Sydney, NSW, Australia.; University of New South Wales, Sydney, NSW, Australia.<br /><searchLink fieldCode="AU" term="%22Das+D%22">Das D</searchLink>; Victor Chang Cardiac Research Institute, Sydney, NSW, Australia.; University of New South Wales, Sydney, NSW, Australia.<br /><searchLink fieldCode="AU" term="%22O'Reilly+V%22">O'Reilly V</searchLink>; Victor Chang Cardiac Research Institute, Sydney, NSW, Australia.; University of New South Wales, Sydney, NSW, Australia.<br /><searchLink fieldCode="AU" term="%22Sipka+A%22">Sipka A</searchLink>; Victor Chang Cardiac Research Institute, Sydney, NSW, Australia.; University of New South Wales, Sydney, NSW, Australia.<br /><searchLink fieldCode="AU" term="%22Iyer+K%22">Iyer K</searchLink>; Victor Chang Cardiac Research Institute, Sydney, NSW, Australia.; University of New South Wales, Sydney, NSW, Australia.<br /><searchLink fieldCode="AU" term="%22Alankarage+D%22">Alankarage D</searchLink>; Victor Chang Cardiac Research Institute, Sydney, NSW, Australia.; University of New South Wales, Sydney, NSW, Australia.<br /><searchLink fieldCode="AU" term="%22Rath+E%22">Rath E</searchLink>; Victor Chang Cardiac Research Institute, Sydney, NSW, Australia.; University of New South Wales, Sydney, NSW, Australia.<br /><searchLink fieldCode="AU" term="%22Kumar+A%22">Kumar A</searchLink>; School of Chemistry and Molecular Biosciences, University of Queensland, Brisbane, QLD, Australia.<br /><searchLink fieldCode="AU" term="%22Kurt+BA%22">Kurt BA</searchLink>; Corewell Health Helen DeVos Children's Hospital, Pediatric Hematology Oncology, Grand Rapids, MI, USA.<br /><searchLink fieldCode="AU" term="%22Voydanoff+ME%22">Voydanoff ME</searchLink>; Corewell Health Helen DeVos Children's Hospital, Pediatric Hematology Oncology, Grand Rapids, MI, USA.<br /><searchLink fieldCode="AU" term="%22Stevenson+RE%22">Stevenson RE</searchLink>; J. C. Self Research Institute of Human Genetics, Greenwood Genetic Center, Greenwood, SC, USA.<br /><searchLink fieldCode="AU" term="%22Winlaw+DS%22">Winlaw DS</searchLink>; Ann and Robert H. Lurie Children's Hospital of Chicago, Chicago, IL, USA.; Feinberg School of Medicine Northwestern University, Chicago, IL, USA.<br /><searchLink fieldCode="AU" term="%22Ascher+DB%22">Ascher DB</searchLink>; School of Chemistry and Molecular Biosciences, University of Queensland, Brisbane, QLD, Australia.; Computational Biology and Clinical Informatics, Baker Heart and Diabetes Institute, Melbourne, VIC, Australia.<br /><searchLink fieldCode="AU" term="%22Giannoulatou+E%22">Giannoulatou E</searchLink>; Victor Chang Cardiac Research Institute, Sydney, NSW, Australia.; School of Clinical Medicine, Faculty of Medicine and Health, University of New South Wales, Sydney, NSW, Australia.<br /><searchLink fieldCode="AU" term="%22Mark+PR%22">Mark PR</searchLink>; Corewell Health, Helen DeVos Children's Hospital, Medical Genetics and Genomics, Grand Rapids, MI, USA.<br /><searchLink fieldCode="AU" term="%22Dunwoodie+SL%22">Dunwoodie SL</searchLink>; Victor Chang Cardiac Research Institute, Sydney, NSW, Australia.; School of Clinical Medicine, Faculty of Medicine and Health, University of New South Wales, Sydney, NSW, Australia.<br /><searchLink fieldCode="AU" term="%22Chapman+G%22">Chapman G</searchLink>; Victor Chang Cardiac Research Institute, Sydney, NSW, Australia. g.chapman@victorchang.edu.au.; School of Clinical Medicine, Faculty of Medicine and Health, University of New South Wales, Sydney, NSW, Australia. g.chapman@victorchang.edu.au.
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  Data: <searchLink fieldCode="JN" term="%229302235%22">European journal of human genetics : EJHG</searchLink> [Eur J Hum Genet] 2026 May; Vol. 34 (5), pp. 619-629. <i>Date of Electronic Publication: </i>2026 Mar 18.
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