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Novel variants in the SOX11 gene: clinical description of seven new patients.
Schincariol-Manhe B, Campagnolo É, Spineli-Silva S, de Leeuw N, Correia-Costa GR, Pessoa A, de Souza CFM, Stevens C, Javaher P, Scallet HF, Mohr J, Biskup S, Herkert JC, Pfundt R, Mehta L, Rekab A, Elloumi HZ, Sanyoura M, Maciel-Guerra AT, Gil-da-Silva-Lopes VL, Dos Santos AM, Vieira TP. Schincariol-Manhe B, et al. Eur J Hum Genet. 2024 Dec;32(12):1640-1646. doi: 10.1038/s41431-024-01695-8. Epub 2024 Sep 27. Eur J Hum Genet. 2024. PMID: 39333428 Free PMC article.