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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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| Udgivet i: | PLoS One |
|---|---|
| Main Authors: | , , , , |
| Format: | Artigo |
| Sprog: | Inglês |
| Udgivet: |
Public Library of Science
2015
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| Fag: | |
| Online adgang: | 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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