对患有脊柱侧凸和四肢挛缩的波兰家庭的研究扩展了 MYH3 疾病谱。
关键词: MYH3 pathogenic variant congenital contractures congenital scoliosis next-generation sequencing
Mesh : Humans Contracture / genetics Mutation Phenotype Poland Scoliosis / genetics congenital
来 源:
DOI:10.3390/genes15010125
PDF(Pubmed)