Pseudohypoparathyroidism Type Ib Associated with Novel Duplications in the GNAS Locus

CONTEXT: Pseudohypoparathyroidism type 1b (PHP-Ib) is characterized by renal resistance to PTH (and, sometimes, a mild resistance to TSH) and absence of any features of Albright's hereditary osteodystrophy. Patients with PHP-Ib suffer of defects in the methylation pattern of the complex GNAS lo...

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Detalles Bibliográficos
Autores principales: Perez-Nanclares, Gustavo, Velayos, Teresa, Vela, Amaya, Muñoz-Torres, Manuel, Castaño, Luis
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2015
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4339194/
https://www.ncbi.nlm.nih.gov/pubmed/25710380
http://dx.doi.org/10.1371/journal.pone.0117691

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4339194/
https://www.ncbi.nlm.nih.gov/pubmed/25710380
http://dx.doi.org/10.1371/journal.pone.0117691

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