Article

Pathogenic variants in<i>SMARCA5</i>, a chromatin remodeler, cause a range of syndromic neurodevelopmental features

2020-10-28

Abstract excerpt

Intellectual disability (ID) encompasses a wide spectrum of neurodevelopmental disorders, with many linked genetic loci. However, the underlying molecular mechanism for over 50% of the patients remains elusive. We describe mutations in SMARCA5 , encoding the ATPase motor of the ISWI chromatin remodeler, as a cause of a novel neurodevelopmental disorder, identifying twelve individuals with de novo or dominantly seg...

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Literature Corpus work: b03574bf-9518-5e2e-88e6-90a173f33884
DOI: 10.1101/2020.10.26.20217109

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