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Article

Clinical and genetic characteristics of Pseudohypoparathyroidism in the Chinese population.

Clinical endocrinology - 1 Feb 2018

Chu Xueying, Zhu Yan, Wang Ou, Nie Min, Quan Tingting, Xue Yu, Wang Wenbo, Jiang Yan, Li Mei, Xia Weibo, Xing Xiaoping

Abstract excerpt

BACKGROUND: Pseudohypoparathyroidism (PHP) is caused by mutations and epimutations in the GNAS locus, and characterized by the possibility of resistance to multiple hormones and Albright's hereditary osteodystrophy. PHP can be classified into the forms 1A/C, sporadic 1B and familial 1B. OBJECTIVES: To obtain an overall view of the clinical and genetic characteristics of the Chinese PHP patient population....

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Source

Identifiers

PMID: 29136292
DOI: 10.1111/cen.13516

Genes

GNAS

Variants

Provenance

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