Clinical Phenotype in a Toddler with a Novel Heterozygous Mutation of the Vitamin D Receptor
Joint Authors
Brar, Preneet Cheema
Pappas, John G.
Dingle, Elena
Raisingani, Manish
Source
Issue
Vol. 2017, Issue 2017 (31 Dec. 2017), pp.1-4, 4 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2017-05-23
Country of Publication
Egypt
No. of Pages
4
Main Subjects
Abstract EN
We present the clinical phenotype of a toddler who presented with vitamin D-resistant rickets, with one of the highest initial levels of alkaline phosphatase and parathyroid hormone (PTH) levels reported in the literature.
The toddler had novel compound heterozygous mutations in the ligand-binding site of the vitamin D receptor and had an excellent response to calcitriol (1,25(OH)2D).
American Psychological Association (APA)
Brar, Preneet Cheema& Dingle, Elena& Pappas, John G.& Raisingani, Manish. 2017. Clinical Phenotype in a Toddler with a Novel Heterozygous Mutation of the Vitamin D Receptor. Case Reports in Endocrinology،Vol. 2017, no. 2017, pp.1-4.
https://search.emarefa.net/detail/BIM-1145078
Modern Language Association (MLA)
Brar, Preneet Cheema…[et al.]. Clinical Phenotype in a Toddler with a Novel Heterozygous Mutation of the Vitamin D Receptor. Case Reports in Endocrinology No. 2017 (2017), pp.1-4.
https://search.emarefa.net/detail/BIM-1145078
American Medical Association (AMA)
Brar, Preneet Cheema& Dingle, Elena& Pappas, John G.& Raisingani, Manish. Clinical Phenotype in a Toddler with a Novel Heterozygous Mutation of the Vitamin D Receptor. Case Reports in Endocrinology. 2017. Vol. 2017, no. 2017, pp.1-4.
https://search.emarefa.net/detail/BIM-1145078
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1145078
