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...

Full description

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
id doaj-ea701f2de3ed4a07a043837502efc796
record_format Article
spelling doaj-ea701f2de3ed4a07a043837502efc7962020-11-24T20:57:53ZengHindawi LimitedCase Reports in Endocrinology2090-65012090-651X2017-01-01201710.1155/2017/39059053905905Clinical Phenotype in a Toddler with a Novel Heterozygous Mutation of the Vitamin D ReceptorPreneet Cheema Brar0Elena Dingle1John Pappas2Manish Raisingani3Department of Pediatrics, Division of Pediatric Endocrinology and Diabetes, New York University School of Medicine, New York, NY, USADepartment of Pediatrics, Division of Pediatric Endocrinology and Diabetes, New York University School of Medicine, New York, NY, USADepartment of Pediatrics, Clinical Genetics Services, New York University School of Medicine, New York, NY, USADepartment of Pediatrics, Division of Pediatric Endocrinology and Diabetes, New York University School of Medicine, New York, NY, USAWe 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).http://dx.doi.org/10.1155/2017/3905905
collection DOAJ
language English
format Article
sources DOAJ
author Preneet Cheema Brar
Elena Dingle
John Pappas
Manish Raisingani
spellingShingle Preneet Cheema Brar
Elena Dingle
John Pappas
Manish Raisingani
Clinical Phenotype in a Toddler with a Novel Heterozygous Mutation of the Vitamin D Receptor
Case Reports in Endocrinology
author_facet Preneet Cheema Brar
Elena Dingle
John Pappas
Manish Raisingani
author_sort Preneet Cheema Brar
title Clinical Phenotype in a Toddler with a Novel Heterozygous Mutation of the Vitamin D Receptor
title_short Clinical Phenotype in a Toddler with a Novel Heterozygous Mutation of the Vitamin D Receptor
title_full Clinical Phenotype in a Toddler with a Novel Heterozygous Mutation of the Vitamin D Receptor
title_fullStr Clinical Phenotype in a Toddler with a Novel Heterozygous Mutation of the Vitamin D Receptor
title_full_unstemmed Clinical Phenotype in a Toddler with a Novel Heterozygous Mutation of the Vitamin D Receptor
title_sort clinical phenotype in a toddler with a novel heterozygous mutation of the vitamin d receptor
publisher Hindawi Limited
series Case Reports in Endocrinology
issn 2090-6501
2090-651X
publishDate 2017-01-01
description 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).
url http://dx.doi.org/10.1155/2017/3905905
work_keys_str_mv AT preneetcheemabrar clinicalphenotypeinatoddlerwithanovelheterozygousmutationofthevitamindreceptor
AT elenadingle clinicalphenotypeinatoddlerwithanovelheterozygousmutationofthevitamindreceptor
AT johnpappas clinicalphenotypeinatoddlerwithanovelheterozygousmutationofthevitamindreceptor
AT manishraisingani clinicalphenotypeinatoddlerwithanovelheterozygousmutationofthevitamindreceptor
_version_ 1716787270751617024

Similar Items