Hearing characteristics and otoradiological abnormalities in three patients with novel pathogenic variants of KMT2D-related Kabuki syndrome.
Zheng Z, Ding L, Wang M, Zhang Y, Yang Y, Tang M, Xu J, Wang L, Wu J, Li H. Mol Genet Genomic Med. 2024 Jan; 12(1):e2306. Epub 2023 Nov 3.