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PedAM

Pediatric Disease Annotations & Medicines




Disease hypophosphatemia
Phenotype C1704375|hypophosphatemic rickets
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PubMedID- 26119317 On the other hand, iron deficiency promotes fgf23 and induces hypophosphatemia in patients with autosomal dominant hypophosphatemic rickets (adhr).
PubMedID- 20687959 In humans, failure of this cleavage step results in secretion of additional full-length fgf23, which can cause hypophosphatemia leading to autosomal dominant hypophosphatemic rickets/osteomalacia [33,34].
PubMedID- 23451204 For example, overproduction of fgf23 in osteoblastomas or stabilizing mutations in fgf23 protein is sufficient to cause hypophosphatemia, leading to osteomalacia or hypophosphatemic rickets in humans [5], [7].

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