Article

Delineating the molecular and phenotypic spectrum of the <i>SETD1B</i> -related syndrome

2021-02-15

Abstract excerpt

<h4>ABSTRACT</h4> Pathogenic variants in SETD1B have been associated with a syndromic neurodevelopmental disorder including intellectual disability, language delay and seizures. To date, clinical features have been described for eleven patients with (likely) pathogenic SETD1B sequence variants. We perform an in-depth clinical characterization of a cohort of 36 unpublished individuals with SETD1B sequence varia...

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Literature Corpus work: bb57b898-ffec-5aa5-b9bf-683e623528da
DOI: 10.1101/2021.02.11.430742

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