Associated Papers
Novel TONSL variants cause SPONASTRIME dysplasia and associate with spontaneous chromosome breaks, defective cell proliferation and apoptosis.
Micale L et al.
Human Molecular Genetics, 2020
Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes.
Burrage LC et al.
American Journal of Human Genetics, 2019
Hypomorphic Mutations in TONSL Cause SPONASTRIME Dysplasia.
Chang HR et al.
American Journal of Human Genetics, 2019
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