A Case of Vitamin D-Dependent Rickets Type 1A with a Novel Mutation in the Uzbek Population

Vitamin D-dependent rickets type 1A (VDDR-1A) (Online Mendelian Inheritance in Man #264700) is a rare, autosomal recessively inherited disorder due to inactivating mutations in CYP27B1. It is characterized by early onset of rickets with hypocalcemia. We aimed to describe the clinical and laboratory...

Full beskrivning

Sparad:
Bibliografiska uppgifter
I publikationen:J Clin Res Pediatr Endocrinol
Huvudupphovsmän: Özcabı, Bahar, Tahmiscioğlu Bucak, Feride, Jaferova, Sevinç, Oruç, Çiğdem, Adrovic, Amra, Ceylaner, Serdar, Ercan, Oya, Evliyaoğlu, Olcay
Materialtyp: Artigo
Språk:Inglês
Publicerad: Galenos Publishing 2016
Ämnen:
Case Report
Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC5198011/
https://ncbi.nlm.nih.gov/pubmed/27353739
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.4274/jcrpe.3128
Taggar: Lägg till en tagg
Inga taggar, Lägg till första taggen!

Liknande verk