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Article

ZNF142 mutation causes sex-dependent neurologic disorder.

Journal of medical genetics - 21 May 2024

Proskorovski-Ohayon Regina, Eskin-Schwartz Marina, Shorer Zamir, Kadir Rotem, Halperin Daniel, Drabkin Max, Yogev Yuval, Aharoni Sarit, Hadar Noam, Cohen Hagit, Eremenko Ekaterina, Perez Yonatan, Birk Ohad S

Abstract excerpt

BACKGROUND: Sex-specific predilection in neurological diseases caused by mutations in autosomal genes is a phenomenon whose molecular basis is poorly understood. We studied females of consanguineous Bedouin kindred presenting with severe global developmental delay and epilepsy. METHODS: Linkage analysis, whole exome sequencing, generation of CRISPR/cas9 knock-in mice, mouse behaviour and molecular studies...

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Source

Identifiers

PMID: 38296634
DOI: 10.1136/jmg-2023-109447

Genes

ZNF142

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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