Burrage et al., 2019 - Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes. American journal of human genetics   104(3):422-438 Full text @ Am. J. Hum. Genet.
Human Disease / Model Data (1 Record)
Human Disease Fish Environment Evidence Code
spondyloepimetaphyseal dysplasia, Sponastrime type
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