Caricamento...

Clinical and genetic findings in a Chinese family with VDR-associated hereditary vitamin D-resistant rickets

Hereditary vitamin D-resistant rickets (HVDRR) is a rare autosomal recessive disorder characterized by severe rickets, hypocalcemia, hypophosphatemia, secondary hyperparathyroidism, and elevated alkaline phosphatase. This disorder is caused by homogeneous or heterogeneous mutations affecting the fun...

Descrizione completa

Salvato in:
Dettagli Bibliografici
Pubblicato in:Bone Res
Autori principali: Pang, Qianqian, Qi, Xuan, Jiang, Yan, Wang, Ou, Li, Mei, Xing, Xiaoping, Dong, Jin, Xia, Weibo
Natura: Artigo
Lingua:Inglês
Pubblicazione: Nature Publishing Group 2016
Soggetti:
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC4923942/
https://ncbi.nlm.nih.gov/pubmed/27408766
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/boneres.2016.18
Tags: Aggiungi Tag
Nessun Tag, puoi essere il primo ad aggiungerne! !