Article

Severity of ATAD3A-related pontocerebellar hypoplasia correlates with the severity of pathogenic variants

2022-12-16

Abstract excerpt

<title>Abstract</title> <p><bold>Background:</bold> Pathogenic variants in the <italic>ATAD3A</italic> gene lead to a heterogenous clinical picture and severity ranging from recessive neonatal-lethal pontocerebellar hypoplasia through milder dominant Harel-Yoon syndrome up to, again, neonatal-lethal but dominant cardiomyopathy. The genetic diagnostics of <italic>ATAD3A-</italic>related disorders is also challengi...

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Literature Corpus work: 1762a70e-678a-5754-9d72-77580c167300
DOI: 10.21203/rs.3.rs-2329718/v1

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