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Results for “"Marcello Niceta"”

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Biallelic variants in <scp><i>ZNF142</i></scp> lead to a syndromic neurodevelopmental disorder

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Maria Bejerholm Christensen, Amanda M. Levy, Nazanin A. Mohammadi, Marcello Niceta et al.

Journal: Clinical GeneticsYear: 2022Citations: 16

Biallelic variants of the gene encoding for the zinc-finger protein 142 (ZNF142) have recently been associated with intellectual disability (ID), speech impairment, seizures, and movement disorders in nine individuals from five families. In this study, we obtained phenotype and genotype information ...

Life SciencesBiochemistry, Genetics and Molecular BiologyGeneticsOpen Access
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