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
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
Clinical characterization of Lamb-Shaffer syndrome: a case report and literature review.
Zhu GQ et al.
Bmc Medical Genomics, 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
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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