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. |
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| 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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