关键词: absent speech arthrogryposis multiplex congenita decreased muscle mass flexion contracture fractures of the long bones frontal bossing generalized cerebral atrophy/hypoplasia generalized muscle weakness infantile spasms prominent ear helix relative macrocephaly severe muscular hypotonia skeletal myopathy thick eyebrow
Mesh : Arthrogryposis / genetics pathology Base Sequence / genetics Child Exome / genetics Female Humans Kinesins / physiology Male Microtubule-Associated Proteins / genetics metabolism physiology Muscular Atrophy / genetics pathology Mutation / genetics Mutation, Missense / genetics Pedigree Phenotype Whole Exome Sequencing / methods Whole Genome Sequencing / methods
来 源: DOI:10.1101/mcs.a003160 PDF(Pubmed)