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
Optic atrophy in Lamb-Shaffer syndrome: two case presentations with ophthalmic imaging studies.
Alkhabbaz AA et al.
Journal of Aapos : the Official Publication of the American Association for Pediatric Ophthalmology and Strabismus, 2025
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
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
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
Select a paper to view details