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Reveals dilated aorta in CNOT3-related neurodevelopmental disorders, highlighting the expanding genotype-phenotype spectrum.
Neurodevelopmental disorders (NDDs) comprise conditions that emerge during the child's development and contribute significantly to global health and economic burdens. De novo variants in CNOT3 have been linked to NDDs and understanding the genotype-phenotype relationship between CNOT3 and NDDs will aid in improving diagnosis and management.
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Lau et al. (2024) studied this question.
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