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...

Descripción completa

Detalles Bibliográficos
Autores principales: 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: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2014
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4232664/
https://www.ncbi.nlm.nih.gov/pubmed/25371233
http://dx.doi.org/10.1186/1756-0500-7-783

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4232664/
https://www.ncbi.nlm.nih.gov/pubmed/25371233
http://dx.doi.org/10.1186/1756-0500-7-783

Ejemplares similares