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A Novel GNAS Mutation in a Patient with Ia Pseudohypoparathyroidism (iPPSD2) Phenotype

Pseudohypoparathyroidism (PHP) is a heterogeneous orphan disease characterized by multihormonal resistance and several phenotypic features. In some cases, PHP is caused by a mutation in the GNAS that encodes the alpha subunit of the G protein, one of the key transmitters of intracellular signals. A...

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Detalles Bibliográficos
Autores principales:	Gorbacheva, Anna, Pogoda, Tatyana, Bogdanov, Viktor, Zakharova, Victoriya, Salimkhanov, Rustam, Eremkina, Anna, Melnichenko, Galina, Mokrysheva, Natalia
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	MDPI 2023
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9956201/ https://www.ncbi.nlm.nih.gov/pubmed/36833251 http://dx.doi.org/10.3390/genes14020324

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