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References | OMIM | Gene | GeneReviews | HGMD | HGNC |
GENATLAS PHENOTYPE |
last update : 13-12-2013 |
Symbol | ASPED | ||
Location | 20q11.22 | ||
Name | angel-shaped phalango-epiphyseal dysplasia (ASPED) | ||
Corresponding gene | GDF5 | ||
Main clinical features |
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Genetic determination
Function/system disorder
| Type
| malformation
| |
Gene product |
Name | cartilage derived morphogenetic protein 1, growth differentiation factor |
Mechanism(s) |
Gene mutation | Chromosome rearrangement | Effect | Comments |
| frameshift
|  
| abnormal protein/loss of function
|  
| |
Remark(s) |