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
Clinical cases series and pathogenesis of Lamb-Shaffer syndrome in China.
Lian R et al.
Orphanet Journal of Rare Diseases, 2024
SOX5: Lamb-Shaffer syndrome-A case series further expanding the phenotypic spectrum.
Edgerley K et al.
American Journal of Medical Genetics. Part A, 2023
Clinical characterization of Lamb-Shaffer syndrome: a case report and literature review.
Zhu GQ et al.
Bmc Medical Genomics, 2023
Widening of the genetic and clinical spectrum of Lamb-Shaffer syndrome, a neurodevelopmental disorder due to SOX5 haploinsufficiency.
Zawerton A et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
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