关键词: CPSKF1B Escobar variant of multiple pterygium syndrome MYH3 arthrogryposis spondylocarpotarsal synostosis syndrome “Contractures, pterygia, and variable skeletal fusions syndrome 1B”
Mesh : Abnormalities, Multiple / genetics Child Child, Preschool Contracture / genetics Cytoskeletal Proteins / genetics Female Gene Deletion Genes, Recessive Genetic Variation Heterozygote Humans Lordosis / genetics Male Malignant Hyperthermia / genetics Mutation Pedigree Phenotype Scoliosis / genetics Sequence Analysis, DNA Siblings Skin Abnormalities / genetics Whole Exome Sequencing
来 源:
DOI:10.1002/ajmg.a.61836
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