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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| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
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Wiley
2017-01-01
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| Series: | Case Reports in Endocrinology |
| Online Access: | http://dx.doi.org/10.1155/2017/3905905 |
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| _version_ | 1850164310575153152 |
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| author | Preneet Cheema Brar Elena Dingle John Pappas Manish Raisingani |
| author_facet | Preneet Cheema Brar Elena Dingle John Pappas Manish Raisingani |
| author_sort | Preneet Cheema Brar |
| collection | DOAJ |
| 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). |
| format | Article |
| id | doaj-art-ea701f2de3ed4a07a043837502efc796 |
| institution | OA Journals |
| issn | 2090-6501 2090-651X |
| language | English |
| publishDate | 2017-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Endocrinology |
| spelling | doaj-art-ea701f2de3ed4a07a043837502efc7962025-08-20T02:22:01ZengWileyCase 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 |
| 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 |
| title | 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_short | 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 |
| url | http://dx.doi.org/10.1155/2017/3905905 |
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