Research progress on clinical characteristics and molecular genetic mechanism of pseudohypoparathyroidism

Pseudohypoparathyroidism (PHP) is a rare genetic disease characterized by parathyroid hormone (PTH) resistance, hypocalcemia and hyperphosphatemia. The pathogenesis is mainly related to the decrease of Gsα expression or impaired function caused by the mutation of GNAS gene encoding Gsα protein, whic...

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Bibliographic Details
Main Author: ZHAO Ping-ping, LIU Jing-fang
Format: Article
Language:zho
Published: Institute of Basic Medical Sciences and Peking Union Medical College Hospital, Chinese Academy of Medical Sciences / Peking Union Medical College. 2021-04-01
Series:Jichu yixue yu linchuang
Subjects:
Online Access:http://journal11.magtechjournal.com/Jwk_jcyxylc/fileup/1001-6325/PDF/a200553.pdf