Clinical Phenotype in a Toddler with a Novel Heterozygous Mutation of the Vitamin D Receptor

Clinical Phenotype in a Toddler with a Novel Heterozygous Mutation of the Vitamin D Receptor

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 s...

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Bibliographic Details
Main Authors:	Preneet Cheema Brar, Elena Dingle, John Pappas, Manish Raisingani
Format:	Article
Language:	English
Published:	Hindawi Limited 2017-01-01
Series:	Case Reports in Endocrinology
Online Access:	http://dx.doi.org/10.1155/2017/3905905

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