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A case report of a patient with neurodevelopmental disorder with impaired speech and hyperkinetic movements: A biallelic variant in the ZNF142 gene.

American journal of medical genetics. Part A - 1 Sept 2024

Kaya Derya, Ceylan Köse Canan, Akcan Mehmet Berkay, Silan Fatma

Abstract excerpt

Biallelic pathogenic variations in the zinc finger protein 142 (ZNF142) gene are associated with neurodevelopmental disorder with impaired speech and hyperkinetic movements (NEDISHM). This disorder is characterized by developmental delay, intellectual disability, speech delay, and movement disorders such as dystonia, tremor, ataxia, and chorea. Here, we report a patient who exhibited common neurological features...

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PMID: 38655717
DOI: 10.1002/ajmg.a.63636

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