Case report: vitamin D‐dependent rickets type 1 caused by a novel CYP27B1 mutation

E-ISSN： 2050-0904|3|12|1012-1016

ISSN： 2050-0904

Source： Clinical Case Reports, Vol.3, Iss.12, 2015-12, pp. : 1012-1016

Disclaimer: Any content in publications that violate the sovereignty, the constitution or regulations of the PRC is not accepted or approved by CNPIEC.

Previous Menu Next

Abstract

Related content

Recognition of signs and symptoms of a Type 1 chondrosarcoma: a case report

By Heick John D. Bustillo Karen L. Farris James W.

Physiotherapy Theory and Practice, Vol. 30, Iss. 1, 2014-01 ,pp. : 49-55

Informa Healthcare

Access to resources Recommend Favorite

A novel CYP17A1 deletion causes a functional knockout of the steroid enzyme 17‐hydroxylase and 17,20‐lyase in a Turkish family and illustrates the precise role of the CYP17A1 gene

Clinical Case Reports, Vol. 3, Iss. 10, 2015-10 ,pp. : 793-797

John Wiley & Sons Inc

Access to resources Recommend Favorite

Familial cortical dysplasia type IIA caused by a germline mutation in DEPDC5

Annals Of Clinical And Translational Neurology, Vol. 2, Iss. 5, 2015-05 ,pp. : 575-580

John Wiley & Sons Inc

Access to resources Recommend Favorite

A novel mutation of SETBP1 in atypical chronic myeloid leukemia transformed from acute myelomonocytic leukemia

Clinical Case Reports, Vol. 3, Iss. 6, 2015-06 ,pp. : 448-452

John Wiley & Sons Inc

Access to resources Recommend Favorite

Syncope and cardiac arrest during strenuous exercise associated with a novel mutation in LQTS1

Clinical Case Reports, Vol. 3, Iss. 12, 2015-12 ,pp. : 971-974

John Wiley & Sons Inc

Access to resources Recommend Favorite