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

Internet

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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