A novel pathogenic mutation of the CYP27B1 gene in a patient with vitamin D-dependent rickets type 1: a case report

BACKGROUND: Rickets can occur due to Vitamin D deficiency or defects in its metabolism. Three rare genetic types of rickets with different alterations of genes have been reported, including: Vitamin D dependent rickets type 1, Vitamin D dependent rickets type 2 or also known as Vitamin D resistant r...

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Detalhes bibliográficos
Publicado no:BMC Res Notes
Main Authors: Babiker, Amir MI, Al Gadi, Iman, Al-Jurayyan, Nasir AM, Al Nemri, Abdulrahman MH, Al haboob, Ali Abdu N, Al Boukai, Ahmed Amer, Al Zahrani, Ali, Habib, Hanan Ahmed
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2014
Assuntos:
Case Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4232664/
https://ncbi.nlm.nih.gov/pubmed/25371233
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1756-0500-7-783
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