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Identification of a Novel Mutation in a Family with Pseudohypoparathyroidism Type 1a
INTRODUCTION: Pseudohypoparathyroidism type 1a is caused by GNAS mutations leading to target organ resistance to multiple hormones rather than parathyroid hormone, resulting not only in hypocalcemia, but also in Albright's hereditary osteodystrophy phenotype. MATERIALS AND METHODS: DNA sequenci...
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| Vydáno v: | Case Rep Endocrinol |
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| Hlavní autoři: | , , , |
| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
Hindawi
2018
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| Témata: | |
| On-line přístup: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5896320/ https://ncbi.nlm.nih.gov/pubmed/29796323 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1155/2018/7813591 |
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