Article

A Novel ZMIZ1 Pathogenic Variant in a Chinese Girl with Neurodevelopmental Disorder and Review of the Literature

2022-10-17

Abstract excerpt

Pathogenic variants in the ZMIZ1 gene have been associated with neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies (NEDDFSA). To date, only five reports have identified ZMIZ1 mutations in patients with neuropsychiatric alterations. Here we described a Chinese pediatric patient with intellectual disability (ID), early and fast puberty, growth restriction, and mild facial dysmorphisms,...

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Literature Corpus work: 2521ebe7-4228-5e16-ae89-021e34b3f312
DOI: 10.21203/rs.3.rs-2145686/v1

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