Genetic & Genomic MedicinemedRxivPreprint
Frameshift variants in TBX2 underlie autosomal-dominant hearing loss with incomplete penetrance of nystagmus
Hua Wan, Yanfei Wang, Xiang Li…·Huijun Yuan
The paper identifies TBX2 frameshift variants as the cause of autosomal-dominant hearing loss with incomplete nystagmus penetrance, validated through linkage analysis, sequencing, and mouse models.
2 citations