A missense variant in the SOX5 gene (c.221C > T) is associated with intellectual disability.
Yang X, Gan Z, Guo X, Huang X, Liu J, Zheng Y, Zhou X, Lian J, Liu Y, Yang T, Li C, Chen F, He F, Xu X, Zhou Y, Liu Q, Yang X, Xiong F.
Yang X, et al. Among authors: zheng y.
Orphanet J Rare Dis. 2025 Feb 4;20(1):50. doi: 10.1186/s13023-025-03548-z.
Orphanet J Rare Dis. 2025.
PMID: 39905544