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Identification of a novel mutation in pseudohypoparathyroidism type Ia in a Chinese family: A case report

INTRODUCTION: Pseudohypoparathyroidism (PHP) indicates a group of rare disorders characterized by end-organ resistance to various hormones, primarily parathyroid hormone (PTH). One of its most common type is PHP-Ia, which is caused by maternally inherited inactivating mutations in GNAS. In this repo...

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Detalles Bibliográficos
Autores principales:	Tang, Yuchen, Zheng, Fenping, Lin, Xihua, Pan, Qianqian, Li, Lin, Li, Hong
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Wolters Kluwer Health 2020
Materias:	4300
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7249942/ https://www.ncbi.nlm.nih.gov/pubmed/32481259 http://dx.doi.org/10.1097/MD.0000000000019965

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