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
Clinical cases series and pathogenesis of Lamb-Shaffer syndrome in China.
Lian R et al.
Orphanet Journal of Rare Diseases, 2024
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
Recurrent inactivation of STAG2 in bladder cancer is not associated with aneuploidy.
Balbás-Martínez C et al.
Nature Genetics, 2013
24121791 (PubMed )
Supplement: NIHMS525200-supplement-2.xls › Relevant_mut_discovery_screen
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