Functional assessment of a novel biallelic MYH3 variation causing CPSKF1B (contractures, pterygia, and spondylocarpotarsal fusion syndrome1B).
He QB, Wu CH, Sun DL, Yuan JY, Hu HY, Yang K, Chen WQ, Yan YS, Yin GY, Zhang J, et al. Mol Genet Genomic Med. 2024 Mar; 12(3):e2401.