Source:http://linkedlifedata.com/resource/lhgdn/association:17042
| Predicate | Object |
|---|---|
| lhgdn:found_in | |
| lhgdn:geneRifSource |
Findings indicated that the 951-953 (delC) deletion mutation in the FOXL2 gene in the two patients resulted in truncated proteins and hence led to their blepharophimosis, ptosis, and epicanthus inversus syndrome.
|
| lhgdn:mesh_code |
D016569
|
| lhgdn:associationIdType | |
| lhgdn:umls_code |