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Evidence for a Potential Common Gene Network of Smith-Magenis and Potocki-Lupski Syndromes, DAND (DEAF1-Associated Neurodevelopmental Disorder) and ZEB1-Associated Neurodevelopment Disorder

2020-12-29

Abstract excerpt

<title>Abstract</title> <p><bold>Background: </bold>Neuropsychiatric disorders are highly heterogeneous and often display overlapping phenotypes, suggesting possible defects in common genetic networks. We previously reported pathogenic variants in deformed epidermal autoregulatory factor-1 (DEAF1) that contribute to DEAF1-associated neurodevelopmental disorder (DAND) and predicted that DEAF1 regulates expression...

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Literature Corpus work
e4bdffbd-5f60-54f0-8838-5c8a88ebece5
DOI
10.21203/rs.3.rs-135772/v1
Open publication

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