Article

Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction

2020-10-24

Abstract excerpt

Whereas large-scale statistical analyses can robustly identify disease-gene relationships, they do not accurately capture genotype-phenotype correlations or disease mechanisms. We use multiple lines of independent evidence to show that different variant types in a single gene, SATB1 , cause clinically overlapping but distinct neurodevelopmental disorders. Clinical evaluation of 42 individuals carrying SATB1 vari...

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Literature Corpus work: 30824f7f-c471-5df6-8ebe-f14fe1abd10b
DOI: 10.1101/2020.10.23.352278

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