Associated Papers
Mutations in the Rab33b protein that lead to the skeletal disease Smith-McCort dysplasia result in unstable proteins and altered autophagy function.
Parisi SR et al.
European Journal of Cell Biology, 2026
Further defining the molecular spectrum and long-term follow-up of 17 patients with Dyggve-Melchior-Clausen and Smith-McCort dysplasia type 2.
Akalın A et al.
American Journal of Medical Genetics. Part A, 2024
Identifying pathogenicity of human variants via paralog-based yeast complementation.
Yang F et al.
Plos Genetics, 2017
Additional three patients with Smith-McCort dysplasia due to novel RAB33B mutations.
Salian S et al.
American Journal of Medical Genetics. Part A, 2017
A novel RAB33B mutation in Smith-McCort dysplasia.
Dupuis N et al.
Human Mutation, 2013
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