SOX11 variants cause a neurodevelopmental disorder with infrequent ocular malformations and hypogonadotropic hypogonadism and with distinct DNA methylation profile.
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Al-Jawahiri R, et al.
Genet Med. 2022 Jun;24(6):1261-1273. doi: 10.1016/j.gim.2022.02.013. Epub 2022 Mar 24.
Genet Med. 2022.
PMID: 35341651
Free PMC article.