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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Detalhes bibliográficos
Main Authors: Fernandez-Rebollo, Eduardo, García-Cuartero, Beatriz, Garin, Intza, Largo, Cristina, Martínez, Francisco, Garcia-Lacalle, Concepcion, Castaño, Luis, Bastepe, Murat, Pérez de Nanclares, Guiomar
Formato: Artigo
Idioma:Inglês
Publicado em: The Endocrine Society 2010
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Original Article
Acesso em linha: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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