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Article

Genotype-Phenotype Comparison in POGZ-Related Neurodevelopmental Disorders by Using Clinical Scoring.

Genes - 15 Jan 2022

Nagy Dóra, Verheyen Sarah, Wigby Kristen M, Borovikov Artem, Sharkov Artem, Slegesky Valerie, Larson Austin, Fagerberg Christina, Brasch-Andersen Charlotte, Kibæk Maria, Bader Ingrid, Hernan Rebecca, High Frances A, Chung Wendy K, Schieving Jolanda H, Behunova Jana, Smogavec Mateja, Laccone Franco, Witsch-Baumgartner Martina, Zobel Joachim, Duba Hans-Christoph, Weis Denisa

Abstract excerpt

POGZ-related disorders (also known as White-Sutton syndrome) encompass a wide range of neurocognitive abnormalities and other accompanying anomalies. Disease severity varies widely among POGZ patients and studies investigating genotype-phenotype association are scarce. Therefore, our aim was to collect data on previously unreported POGZ patients and perform a large-scale phenotype-genotype comparison from...

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Identifiers

PMID: 35052493
DOI: 10.3390/genes13010154
PMCID: PMC8775410

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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