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Identification of a novel GNAS mutation in a case of pseudohypoparathyroidism type 1A with normocalcemia

BACKGROUND: Pseudohypoparathyroidism type 1A (PHP1A) is a rare genetic disease primarily characterized by resistance to parathyroid hormone along with hormonal resistance and other features of Albright hereditary osteodystrophy (AHO). It is caused by heterozygous inactivating mutations in the matern...

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Detalles Bibliográficos
Autores principales:	Long, Xiao-dan, Xiong, Jing, Mo, Zhao-hui, Dong, Chang-sheng, Jin, Ping
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2018
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6065144/ https://www.ncbi.nlm.nih.gov/pubmed/30060753 http://dx.doi.org/10.1186/s12881-018-0648-z

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