Associated Papers
Clinical cases series and pathogenesis of Lamb-Shaffer syndrome in China.
Lian R et al.
Orphanet Journal of Rare Diseases, 2024
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
A SOX5 gene variant as a possible contributor to short stature.
Gkirgkinoudis A et al.
Endocrinology, Diabetes & Metabolism Case Reports, 2020
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