Associated Papers
Non-invasive prenatal detection of dominant single-gene disorders in fetal structural abnormalities: a clinical feasibility study.
Wang L et al.
Archives of Gynecology and Obstetrics, 2024
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
A case of White-Sutton syndrome with previously described loss-of-function variant in DDE domain of POGZ (p.Arg1211*) and Kartagener syndrome.
Dal S et al.
American Journal of Medical Genetics. Part A, 2021
A novel patient with White-Sutton syndrome refines the mutational and clinical repertoire of the POGZ-related phenotype and suggests further observations.
Pascolini G et al.
American Journal of Medical Genetics. Part A, 2020
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