Associated Papers
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
Pathogenic POGZ mutation causes impaired cortical development and reversible autism-like phenotypes.
Matsumura K et al.
Nature Communications, 2020
Phenotypic expansion of POGZ-related intellectual disability syndrome (White-Sutton syndrome).
Assia Batzir N et al.
American Journal of Medical Genetics. Part A, 2020
Genome-wide enrichment of damaging de novo variants in patients with isolated and complex congenital diaphragmatic hernia.
Longoni M et al.
Human Genetics, 2017
POGZ truncating alleles cause syndromic intellectual disability.
White J et al.
Genome Medicine, 2016
Select a paper to view details