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

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Bibliographic Details
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
Description
ISSN:1476-5438
DOI:10.1038/s41431-026-02076-z