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References | OMIM | Gene | GeneReviews | HGMD | HGNC |
GENATLAS PHENOTYPE |
last update : 09/05/07 |
Symbol | GHDD |
Location | 7q33-q34 |
Name | Ghosal hemato-diaphyseal dysplasia |
Corresponding gene | TBXAS1 |
Main clinical features |
|
Genetic determination | autosomal recessive |
Function/system disorder | hematology |
osteo-articular | |
Type | disease |