| Entry |
|
| Name |
|
| Type |
Loss of function
|
| Gene |
|
| Organism |
hsa_var Human gene variants (Homo sapiens)
|
| Variation |
|
| Network |
|
| Disease |
| H00506 | Osteogenesis imperfecta |
|
| Reference |
|
| Authors |
Martinez-Gil N, Ugartondo N, Grinberg D, Balcells S |
| Title |
Wnt Pathway Extracellular Components and Their Essential Roles in Bone Homeostasis. |
| Journal |
|
| Reference |
|
| Authors |
Huybrechts Y, Mortier G, Boudin E, Van Hul W |
| Title |
WNT Signaling and Bone: Lessons From Skeletal Dysplasias and Disorders. |
| Journal |
|
| Reference |
|
| Authors |
Etich J, Rehberg M, Eckes B, Sengle G, Semler O, Zaucke F |
| Title |
Signaling pathways affected by mutations causing osteogenesis imperfecta. |
| Journal |
|
| Reference |
|
| Authors |
Besio R, Chow CW, Tonelli F, Marini JC, Forlino A |
| Title |
Bone biology: insights from osteogenesis imperfecta and related rare fragility syndromes. |
| Journal |
|
| LinkDB |
|