Source:http://linkedlifedata.com/resource/lhgdn/association:11816
| Predicate | Object |
|---|---|
| lhgdn:found_in | |
| lhgdn:geneRifSource |
study found that biallelic loss-of-function mutations in the centrosomal pericentrin (PCNT) gene on chromosome 21q22.3 cause microcephalic osteodysplastic primordial dwarfism type II (MOPD II) in 25 patients
|
| lhgdn:mesh_code |
D004392
|
| lhgdn:associationIdType | |
| lhgdn:umls_code |