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...

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Bibliografiset tiedot
Julkaisussa:J Clin Res Pediatr Endocrinol
Päätekijät: Özcabı, Bahar, Tahmiscioğlu Bucak, Feride, Jaferova, Sevinç, Oruç, Çiğdem, Adrovic, Amra, Ceylaner, Serdar, Ercan, Oya, Evliyaoğlu, Olcay
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: Galenos Publishing 2016
Aiheet:
Case Report
Linkit: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
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