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| GENATLAS PHENOTYPE |
| last update : 10-01-2024 |
| Symbol | SSSH |
| Location | 2q37.1 |
| Name | short stature and small hands |
| Corresponding gene | NPPC |
| Main clinical features |
|
| Genetic determination | autosomal dominant |
| Function/system disorder | osteo-articular |
| Type | malformation |
| Remark(s) | . a NPPC analog, which is currently in clinical trials for the treatment of achondroplasia, seems a promising therapeutic approach, since it directly replaces the defective protein (PMID: 28661490)) |