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

Por 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
Publicado no BMC Res Notes (2014)