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PedAM

Pediatric Disease Annotations & Medicines




Disease alopecia
Phenotype C0733682|vitamin d-resistant rickets
Sentences 3
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- 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- 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.

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