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A large inversion involving GNAS exon A/B and all exons encoding Gsα is associated with autosomal dominant pseudohypoparathyroidism type Ib (PHP1B)
Pseudohypoparathyroidism type Ib (PHP1B) is characterized primarily by resistance to parathyroid hormone (PTH) and thus hypocalcemia and hyperphosphatemia, in most case without evidence for Albright Hereditary Osteodystrophy (AHO). PHP1B is associated with epigenetic changes at one or several differ...
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| Publicat a: | J Bone Miner Res |
|---|---|
| Autors principals: | , , , , , , , , , , , , , |
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
2017
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| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5395346/ https://ncbi.nlm.nih.gov/pubmed/28084650 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/jbmr.3083 |
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