Associated Papers
Landscape of Constitutional SOX4 Variation in Human Disorders.
Grippa M et al.
Genes, 2024
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
Tenuous transcriptional threshold of human sex determination. II. SRY exploits water-mediated clamp at the edge of ambiguity.
Racca JD et al.
Frontiers in Endocrinology, 2022
36568077 (PubMed )
Supplement: DataSheet_1.pdf
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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