Genotype-phenotype correlation in ATAD3A deletions: not just of scientific relevance

Abstract excerpt

Sir, Recently, Desai et al. described six subjects with deletions in the ATAD3 gene cluster (Desai et al. 2017). Most of these patients died within their first week of life and one died after 7 months, but one was still alive at 30 years of age. Harel et al. (2016) described three patients with biallellic variations in ATAD3A, one of whom died in the second week of life but the other two were alive at 24 and 26...

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