Article

Episignatures stratifying ADNP syndrome show modest correlation with phenotype

2020-04-02

Abstract excerpt

ADNP syndrome, also known as Helsmoortel-van Der Aa syndrome, is a neurodevelopmental condition associated with intellectual disability/developmental delay, autism spectrum disorder, and multiple medical comorbidities. ADNP syndrome is caused by mutations in the activity-dependent neuroprotective protein (ADNP). A recent study identified genome-wide DNA methylation changes in 22 individuals with ADNP syndrome, add...

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Literature Corpus work: 5ccc2b4f-4751-591f-839b-c8e42947fe0c
DOI: 10.1101/2020.04.01.014902

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