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Evidence of hormone resistance in a pseudo-pseudohypoparathyroidism patient with a novel paternal mutation in GNAS
CONTEXT: Loss-of-function GNAS mutations lead to hormone resistance and Albright’s hereditary osteodystrophy (AHO) when maternally inherited, i.e. pseudohypoparathyroidism-Ia (PHPIa), but cause AHO alone when located on the paternal allele, i.e. pseudoPHP (PPHP). OBJECTIVE: We aimed to establish the...
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| Pubblicato in: | Bone |
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| Autori principali: | , , , , , , , , |
| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
2014
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| Soggetti: | |
| Accesso online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4273232/ https://ncbi.nlm.nih.gov/pubmed/25464124 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.bone.2014.10.006 |
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