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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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Detaylı Bibliyografya
Asıl Yazarlar: Fernandez-Rebollo, Eduardo, García-Cuartero, Beatriz, Garin, Intza, Largo, Cristina, Martínez, Francisco, Garcia-Lacalle, Concepcion, Castaño, Luis, Bastepe, Murat, Pérez de Nanclares, Guiomar
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: The Endocrine Society 2010
Konular:
Online Erişim: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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