Article

Distinct pathogenic genes causing intellectual disability and autism exhibit overlapping effects on neuronal network development

2018-09-05

Abstract excerpt

An intriguing question in medical biology is how mutations in functionally distinct genes can lead to similar clinical phenotypes. For example, patients with mutations in distinct epigenetic regulators EHMT1, MBD5, MLL3 or SMARCB1 share the core clinical features of intellectual disability (ID), autism spectrum disorder (ASD) and facial dysmorphisms. To elucidate how these phenotypic similarities are reflected by...

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Literature Corpus work: ae20623c-0a2c-58cf-a3c9-7da402b6b869
DOI: 10.1101/408252

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