Holt-Oram syndrome: clinical and molecular description of 78 patients with TBX5 variants
Holt-Oram syndrome: clinical and molecular description of 78 patients with TBX5 variants
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England: Nature Publishing Group
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English
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England: Nature Publishing Group
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Holt-Oram syndrome (HOS) is an autosomal dominant condition characterised by the association of congenital heart defect (CHD), with or without rhythm disturbances and radial defects, due to TBX5 variants. The diagnosis is challenged by the variability of expression and the large phenotypic overlap with other conditions, like Okihiro syndrome, TAR s...
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Holt-Oram syndrome: clinical and molecular description of 78 patients with TBX5 variants
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TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_6460573
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_6460573
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ISSN
1018-4813,1476-5438
E-ISSN
1476-5438
DOI
10.1038/s41431-018-0303-3
