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
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
Expanding the phenotypic spectrum of truncating POGZ mutations: Association with CNS malformations, skeletal abnormalities, and distinctive facial dysmorphism.
Dentici ML et al.
American Journal of Medical Genetics. Part A, 2017
Select a paper to view details