Hua W, Wang Y, Li X, Xiong W, et al. Heterozygous TBX2 frameshift variants cause a novel syndromic hearing loss with incompletely penetrant nystagmus. J Med Genet 2025 Sep 17:jmg-2025-110997. doi: 10.1136/jmg-2025-110997.
PMID: 40962492