Recessive variants in ZNF142 cause a complex neurodevelopmental disorder with intellectual disability, speech impairment, seizures, and dystonia.

Affiliation

Center for Human Disease Modeling, Duke University Medical Center, Durham, NC, USA. [Email]

Abstract

The purpose of this study was to expand the genetic architecture of neurodevelopmental disorders, and to characterize the clinical features of a novel cohort of affected individuals with variants in ZNF142, a C2H2 domain-containing transcription factor.

Keywords

ataxia,childhood apraxia of speech,developmental delay,dolichocephaly,homozygosity mapping,

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