Exclusion of the GNAS Locus in PHP-Ib Patients With Broad GNAS Methylation Changes: Evidence for an Autosomal Recessive Form of PHP-Ib?

Most patients with autosomal dominant pseudohypoparathyroidism type Ib (AD-PHP-Ib) carry maternally inherited microdeletions upstream of GNAS that are associated with loss of methylation restricted to GNAS exon A/B. Only few AD-PHP-Ib patients carry microdeletions within GNAS that are associated wit...

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Main Authors: Fernández-Rebollo, Eduardo, de Nanclares, Guiomar Pérez, Lecumberri, Beatriz, Turan, Serap, Anda, Emma, Pérez-Nanclares, Gustavo, Feig, Denice, Nik-Zainal, Serena, Bastepe, Murat, Jüppner, Harald
Formato: Artigo
Idioma:Inglês
Publicado em: 2011
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3814169/
https://ncbi.nlm.nih.gov/pubmed/21523828
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/jbmr.408
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