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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine




Disease rickets
Symptom C0029454|osteopetrosis
Sentences 2
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.
PubMedID- 25673572 Diagnostic dilemma: osteopetrosis with superimposed rickets causing neonatal hypocalcemia.

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