Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes - Phillips, Jennifer B.; Lanza, Denise G.; Jain, Mahim; Raman, Vandana; Chitayat, David; Chinn, Ivan K.; Bertuch, Alison A.; Bamshad, Michael; Savarirayan, Ravi; Doddapaneni, Harsha; Muzny, Donna; Gibbs, Richard A.; et al. (American journal of human genetics, 2019)
Keywords: Adolescent; Adult; Alleles; Animals; Cells, Cultured; Child; Child, Preschool; Chromosomal Instability; DNA Damage; DNA repair; DNA replication; Exome Sequencing; Female; Fibroblasts - metabolism; Fibroblasts - pathology; Genetic Association Studies; Genetic Variation; Humans; Mice; Mice, Knockout; Musculoskeletal Abnormalities - genetics; Musculoskeletal Abnormalities - pathology; NF-kappa B - genetics; Osteochondrodysplasias - genetics; Osteochondrodysplasias - pathology; skeletal dysplasia; SPONASTRIME dysplasia; TONSL; Young Adult; Zebrafish; TONSL; exome sequencing; DNA replication; SPONASTRIME dysplasia; DNA repair; skeletal dysplasia