Associated Papers
Functional characterization of SOX5 variant causing Lamb-Shaffer syndrome and literature review of variants in the SOX5 gene.
Wang P et al.
Orphanet Journal of Rare Diseases, 2025
40500800 (PubMed )
Supplement: 13023_2025_3829_MOESM2_ESM.xlsx › Cases
A missense variant in the SOX5 gene (c.221C > T) is associated with intellectual disability.
Yang X et al.
Orphanet Journal of Rare Diseases, 2025
Role of nucleobase-specific interactions in the binding and bending of DNA by human male sex determination factor SRY.
Racca JD et al.
The Journal of Biological Chemistry, 2024
39168182 (PubMed )
Supplement: mmc1.docx
Lamb-Shaffer syndrome: 20 Spanish patients and literature review expands the view of neurodevelopmental disorders caused by SOX5 haploinsufficiency.
Tenorio-Castano J et al.
Clinical Genetics, 2023
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
Clinical spectrum and follow-up in six individuals with Lamb-Shaffer syndrome (SOX5).
Innella G et al.
American Journal of Medical Genetics. Part A, 2021
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