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PedAM

Pediatric Disease Annotations & Medicines




Disease rickets
Phenotype C0002170|alopecia
Sentences 5
PubMedID- 19815438 Hereditary 1,25-dihydroxyvitamin d-resistant rickets with alopecia resulting from a novel missense mutation in the dna-binding domain of the vitamin d receptor.
PubMedID- 24859502 Hereditary 1,25-dihydroxyvitamin d-resistant rickets with alopecia in four egyptian families: report of three novel mutations in the vitamin d receptor gene.
PubMedID- 21073129 Two new unrelated cases of hereditary 1,25-dihydroxyvitamin d-resistant rickets with alopecia resulting from the same novel nonsense mutation in the vitamin d receptor gene.
PubMedID- 24574685 Vitamin d3-resistant rickets is associated with severe alopecia in childhood.
PubMedID- 23026218 Background: we report a novel mutation in a case of hereditary vitamin d resistant rickets (hvdrr) without alopecia and successful management of this condition with the intravenous formulation of calcium chloride delivered via gastric tube.

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