Work

A unique insertion/duplication in the VDR gene that truncates the VDR causing hereditary 1,25-dihydroxyvitamin D-resistant rickets without alopecia

Year: 2006

Type: article

Study design: Case Report

Source: Archives of Biochemistry and Biophysics

DOI: 10.1016/j.abb.2006.09.027

Authors: Peter J. Malloy, Jining Wang, Lihong Peng, Sunil Nayak, Jeanne M. Sisk, Catherine C. Thompson, David Feldman

Institutions: Stanford Medicine, Stanford University, Kennedy Krieger Institute, Johns Hopkins University, Johns Hopkins Medicine

Language: English

Topic: Vitamin D Research Studies

Subfield: Endocrinology, Diabetes and Metabolism

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: green

Funder: National Institute of Diabetes and Digestive and Kidney Diseases

Awards: VITAMIN D RECEPTOR AND REGULATION OF HORMONE RESPONSE, G6853442321, VITAMIN D RECEPTOR AND REGULATION OF HORMONE RESPONSE

OpenAlex ID: W2127457459

FWCI: 1.268

Cites: 41

Cited by: 39

Related to: 10