MON-261 Investigation of GNAS1 Gene Mutations and Expression Patterns of Fibroblast Growth Factor 23 Protein in McCune-Albright Syndrome

McCune-Albright syndrome (MAS) is characterized by the clinical triad of polyostotic fibrous dysplasia, café-au-lait spots and gonadotropin-releasing hormone-independent precocious puberty, caused by somatic activating mutations of the GNAS1 gene in a mosaic distribution. Overproduction of FGF23 (fi...

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Detalles Bibliográficos
Autores principales: Miyako, Kenichi, Mushimoto, Yuichi, Katsumata, Noriyuki
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Endocrine Society 2019
Materias:
Pediatric Endocrinology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6550652/
http://dx.doi.org/10.1210/js.2019-MON-261

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