Associated Papers
Landscape of Constitutional SOX4 Variation in Human Disorders.
Grippa M et al.
Genes, 2024
Improving diagnostic precision in primary ovarian insufficiency using comprehensive genetic and autoantibody testing.
Vogt EC et al.
Human Reproduction (oxford, England), 2024
37953503 (PubMed )
Supplement: dead233_supplementary_data_file_s1.docx
Evolutionary Landscape of SOX Genes to Inform Genotype-to-Phenotype Relationships.
Underwood A et al.
Genes, 2023
Biallelic in-frame deletion of SOX4 is associated with developmental delay, hypotonia and intellectual disability.
Ghaffar A et al.
European Journal of Human Genetics : Ejhg, 2022
De Novo SOX4 Variants Cause a Neurodevelopmental Disease Associated with Mild Dysmorphism.
Zawerton A et al.
American Journal of Human Genetics, 2019
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