Associated Papers
Phase separation as a possible mechanism for dosage sensitivity.
Yang L et al.
Genome Biology, 2024
38225666 (PubMed )
Supplement: 13059_2023_3128_MOESM3_ESM.xlsx › NMD-escaping_mutations
White-Sutton syndrome and congenital heart disease: case report and literature review.
Duan J et al.
Bmc Pediatrics, 2023
Genotype-Phenotype Comparison in POGZ-Related Neurodevelopmental Disorders by Using Clinical Scoring.
Nagy D et al.
Genes, 2022
35052493 (PubMed )
Supplement: genes-13-00154-s001.zip › SUPPLEMENTARY_TABLE_REVISED.xlsx › B_detailed_literature
Pathogenic POGZ mutation causes impaired cortical development and reversible autism-like phenotypes.
Matsumura K et al.
Nature Communications, 2020
32103003 (PubMed )
Supplement: 41467_2020_14697_MOESM1_ESM.pdf
Phenotypic expansion of POGZ-related intellectual disability syndrome (White-Sutton syndrome).
Assia Batzir N et al.
American Journal of Medical Genetics. Part A, 2020
POGZ truncating alleles cause syndromic intellectual disability.
White J et al.
Genome Medicine, 2016
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