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
SOX5: Lamb-Shaffer syndrome-A case series further expanding the phenotypic spectrum.
Edgerley K et al.
American Journal of Medical Genetics. Part A, 2023
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