The R168G heterozygous mutation of tropomyosin 3 (TPM3) was identified in three family members and has manifestations ranging from asymptotic to serve scoliosis and respiratory complications.
Genes & Diseases
Xu, Haoyue H; Liu, Hang H; Chen, Tao T; Song, Bo B; Zhu, Jin J; Liu, Xing X; Li, Ming M; Luo, Cong C