PedAM
Pediatric Disease Annotations & Medicines
| Disease | ciliopathy |
| Phenotype | C0687120|nephronophthisis |
| Sentences | 2 |
| PubMedID- 22829176 | In 2009, it was suggested by baker and beales and by konstantinidou et al that sensenbrenner syndrome, often but not always characterized by nephronophthisis, is also part of the ciliopathy spectrum based on the phenotypic overlap with the classic ciliopathies [20, 21]. |
| PubMedID- PMC4518892 | We demonstrate that whereas urecs from healthy individuals ciliate well, urecs from ciliopathy patients with nephronophthisis do not. |
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