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ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder.

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0 Published in 2019 at "American journal of human genetics"

DOI: 10.1016/j.ajhg.2018.12.007

Abstract: ZMIZ1 is a coactivator of several transcription factors, including p53, the androgen receptor, and NOTCH1. Here, we report 19 subjects with intellectual disability and developmental delay carrying variants in ZMIZ1. The associated features include growth… read more here.

Keywords: cause syndromic; zmiz1 variants; variants cause; zmiz1 ... See more keywords