eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | rickets |
| Comorbidity | C0029454|osteopetrosis |
| Sentences | 3 |
| PubMedID- 25673572 | Diagnostic dilemma: osteopetrosis with superimposed rickets causing neonatal hypocalcemia. |
| PubMedID- 23151726 | Objective: to describe four children with infantile osteopetrosis complicated by rickets (osteopetrorickets) and review the relevant literature. |
| PubMedID- 25811986 | We also show that osteoclast-specific knockout of snx10 led to severe osteopetrosis, but without rickets, and that dietary calcium supplementation rescued mice with a global knockdown of snx10 from the rachitic phenotype and prevented juvenile lethality, indicating that this simple remedy should always be considered clinically. |
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