Source:http://linkedlifedata.com/resource/lhgdn/association:39486
| Predicate | Object |
|---|---|
| lhgdn:found_in | |
| lhgdn:geneRifSource |
Apert syndrome, a disorder of craniosynostosis, syndactyly, and other craniofacial malformations, is caused by point mutations (Ser252Trp or Pro253Arg) in the fibroblast growth factor receptor 2 gene.
|
| lhgdn:mesh_code |
D000168
|
| lhgdn:associationIdType | |
| lhgdn:umls_code |