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| GENATLAS PHENOTYPE |
| last update : 06-07-2011 |
| Symbol | PNES |
| Location | 14Q32.12 |
| Name | peripheral neuropathy, age-related macular degeneration and hyperelastic skin. |
| Other name(s) | Charcot-Marie-Tooth neuropathy subtype |
| Corresponding gene | FBLN5 |
| Main clinical features | variable association of mild to severe Charcot-Marie-Tooth disease, hyperextensible skin and age-related macular degeneration, PMID: 21576112 |
| Genetic determination | |
| Function/system disorder | |
| Type | disease |
| Gene product |
| Name | a widely expressed constituent of the extracellular matrix that has an essential role in elastic fibre assembly |
| Mechanism(s) |
| Gene mutation | Chromosome rearrangement | Effect | Comments | |
|---|---|---|---|---|
| missense |
| Remark(s) |