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Updated: May 18, 2026
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In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
Published on: August 20, 2019
A novel RAB33B mutation in Smith-McCort dysplasia
Nina Dupuis1, Sophie Lebon, Manoj Kumar
1Inserm, U676, Paris, France.
Human Mutation
|October 9, 2012
Summary
Smith-McCort dysplasia (SMC) is a rare skeletal disorder. Genetic analysis reveals mutations in the RAB33B gene, highlighting Golgi transport
Area of Science:
- Genetics
- Molecular Biology
- Biochemistry
Background:
- Smith-McCort dysplasia (SMC) is a rare autosomal recessive spondylo-epi-metaphyseal dysplasia.
- SMC shares skeletal features with Dyggve-Melchior-Clausen syndrome (DMC) but presents with normal intelligence and no microcephaly.
- While DYM gene mutations explain some cases, others remain genetically unidentified.
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