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Intragenic GNAS Deletion Involving Exon A/B in Pseudohypoparathyroidism Type 1A Resulting in an Apparent Loss of Exon A/B Methylation: Potential for Misdiagnosis of Pseudohypoparathyroidism Type 1B
Context: Several endocrine diseases that share resistance to PTH are grouped under the term pseudohypoparathyroidism (PHP). Patients with PHP type Ia show additional hormone resistance, defective erythrocyte G(s)α activity, and dysmorphic features termed Albright’s hereditary osteodystrophy (AHO). P...
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Main Authors: | , , , , , , , , |
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Format: | Artigo |
Jezik: | Inglês |
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The Endocrine Society
2010
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Teme: | |
Online dostop: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2840867/ https://ncbi.nlm.nih.gov/pubmed/20008020 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/jc.2009-1581 |
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