Article

Inherited variants in <i>CHD3</i> demonstrate variable expressivity in Snijders Blok-Campeau syndrome

2021-10-05

Abstract excerpt

<h4>Summary</h4> Interpretation of next-generation sequencing data of individuals with an apparent sporadic neurodevelopmental disorder (NDD) often focusses on pathogenic variants in genes associated with NDD, assuming full clinical penetrance with limited variable expressivity. Consequently, inherited variants in genes associated with dominant disorders may be overlooked when the transmitting parent is clinically...

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Literature Corpus work: 4b14e0f0-56b0-5df7-8cb0-959b24c5c65d
DOI: 10.1101/2021.10.04.21264162

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