Genotype–phenotype correlations and differential diagnosis in autosomal dominant macular disease
✍ Scribed by Alessandro Iannaccone
- Book ID
- 110363634
- Publisher
- Springer-Verlag
- Year
- 2001
- Tongue
- English
- Weight
- 745 KB
- Volume
- 102
- Category
- Article
- ISSN
- 0012-4486
No coin nor oath required. For personal study only.
📜 SIMILAR VOLUMES
Autosomal dominant cerebellar ataxias (ADCAs) are clinically and genetically heterogeneous neurodegenerative disorders. The aim of this study was to evaluate electrophysiologically peripheral nervous system involvement in each of the groups studied and its correlation with the number of CAG repeats.
Communicated by David N. Cooper von Hippel-Lindau (VHL) disease is a dominantly inherited familial cancer syndrome resulting from mutations in the VHL tumor suppressor gene. VHL disease displays marked variation in expression and the presence of pheochromocytoma has been linked to missense VHL mutat