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Analysis of Multiple Families With Single Individuals Affected by Pseudohypoparathyroidism Type Ib (PHP1B) Reveals Only One Novel Maternally Inherited GNAS Deletion
Proximal tubular resistance to parathyroid hormone (PTH) resulting in hypocalcemia and hyperphosphatemia are preeminent abnormalities in pseudohypoparathyroidism type Ib (PHP1B), but resistance toward other hormones as well as variable features of Albright’s Hereditary Osteodystrophy (AHO) can occur...
Shranjeno v:
| izdano v: | J Bone Miner Res |
|---|---|
| Main Authors: | , , , , , , , , , , |
| Format: | Artigo |
| Jezik: | Inglês |
| Izdano: |
2015
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| Teme: | |
| Online dostop: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4826817/ https://ncbi.nlm.nih.gov/pubmed/26479409 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/jbmr.2731 |
| Oznake: |
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