Article
EXPANDED PHENOTYPE OF TMEM67 GENE MUTATION (CASE REPORT).
Georgian medical news - 1 Jun 2017
Tkemaladze T, Melikishvili G, Kherkheulidze V, Melikishvili A, Davitaia T
Abstract excerpt
Human ciliopathies are a class of multi-organ genetic disorders caused by defects of proteins expressed at the primary cilium, an organelle present on the cell surface of almost all cell types. Thus far, dozens of causative genes for ciliopathies have been identified and many of them are known to cause allelic disease. Of particular interest is the TMEM67 gene, encoding the transmembrane protein meckelin. The...
Topics
- Cerebellar Diseases
- Child, Preschool
- Ciliopathies
- Humans
- Kidney Diseases
- Kidney Diseases, Cystic
- Kidney Failure, Chronic
- Male
- Membrane Proteins
- Microcephaly
- Mutation
- Ocular Motility Disorders
- Phenotype