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Pseudohypoparathyroidism Type Ib Associated with Novel Duplications in the GNAS Locus
CONTEXT: Pseudohypoparathyroidism type 1b (PHP-Ib) is characterized by renal resistance to PTH (and, sometimes, a mild resistance to TSH) and absence of any features of Albright's hereditary osteodystrophy. Patients with PHP-Ib suffer of defects in the methylation pattern of the complex GNAS lo...
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| Опубликовано в: : | PLoS One |
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| Главные авторы: | , , , , |
| Формат: | Artigo |
| Язык: | Inglês |
| Опубликовано: |
Public Library of Science
2015
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| Предметы: | |
| Online-ссылка: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4339194/ https://ncbi.nlm.nih.gov/pubmed/25710380 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0117691 |
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