A novel RAB33B mutation in Smith-McCort dysplasia. [electronic resource]
Producer: 20130726Description: 283-6 p. digitalISSN:- 1098-1004
- Dwarfism -- genetics
- Exome
- Genetic Diseases, X-Linked -- genetics
- Genetic Heterogeneity
- Golgi Apparatus -- genetics
- Humans
- Intellectual Disability -- genetics
- Intracellular Signaling Peptides and Proteins
- Male
- Mutation
- Osteochondrodysplasias -- congenital
- Phenotype
- Proteins -- genetics
- Sequence Analysis
- Young Adult
- rab GTP-Binding Proteins -- genetics
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Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
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