Carregant...

Compound Heterozygous Mutations in the Vitamin D Receptor in a Patient With Hereditary 1,25-Dihydroxyvitamin D–Resistant Rickets With Alopecia

Hereditary vitamin D–resistant rickets (HVDRR) is a rare recessive genetic disorder caused by mutations in the vitamin D receptor (VDR). In this study, we examined the VDR in a young girl with clinical features of HVDRR including rickets, hypophosphatemia, and elevated serum 1,25(OH)(2)D. The girl a...

Descripció completa

Guardat en:
Dades bibliogràfiques
Autors principals: Zhou, Yulin, Wang, Jining, Malloy, Peter J, Dolezel, Zdenek, Feldman, David
Format: Artigo
Idioma:Inglês
Publicat: Amer Soc Bone & Mineral Res. 2009
Matèries:
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC2659515/
https://ncbi.nlm.nih.gov/pubmed/19049339
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1359/JBMR.081216
Etiquetes: Afegir etiqueta
Sense etiquetes, Sigues el primer a etiquetar aquest registre!