Article

A novel ATAD3 duplication in a Chinese patient with epilepsy and hyperlactacidemia expands the range of clinical phenotype of 1p36.33 duplication syndrome

2023-08-31

Abstract excerpt

<h4>Background: </h4> Heterozygous duplication within the ATAD3 gene cluster can cause autosomal dominant chromosome 1p36.33 duplication syndrome, a rare and fatal multisystemic disorder, characterized by lethal perinatal cardiomyopathy, persistent hyperlactacidemia, and corneal clouding or cataracts, resulting in death in the first weeks of life. Methods Herein, we report a case of a 4-month, 27-day-old Chinese...

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Literature Corpus work: 57d7edee-6f6f-5b1c-8c65-763f80487e0f
DOI: 10.21203/rs.3.rs-3290958/v1

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