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ba0005p433 | Other diseases of bone and mineral metabolism | ECTS2016

Genetic and clinical characteristics of Chinese pseudohypoparathyroidism patients

Chu Xueying , Zhu Yan , Nie Min , Wang Ou , Jiang Yan , Xia Weibo , Xing Xiaoping , Meng Xunwu , Li Mei

Objects: Seventy seven clinically diagnosed pseudohypoparathyroidism (PHP) patients from our hospital during 20002010 were recruited to analyze the clinical features and molecular genetics of Chinese PHP patients.Methods: The clinical data of the 77 PHP patients were retrospectively analyzed. Methylation status of GNAS was detected by combined bisulfiterestriction analysis. Genome DNA was extracted from peripheral blood lymphocytes. GN...

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ba0005p445 | Other diseases of bone and mineral metabolism | ECTS2016

Clinical and genetic analysis of multiple endocrine neoplasia type 1-related primary hyperparathyroidism in Chinese: a single-center experience over ten years

Kong Jing , Wang Ou , Nie Min , Shi Jie , Hu Yingying , Jiang Yan , Li Mei , Xia Weibo , Meng Xunwu , Xing Xiaoping

Objective: Multiple endocrine neoplasia type 1-related PHPT (MHPT) differs in many aspects from sporadic PHPT (SHPT). The aims of the study were to summarize the clinical features of Chinese MHPT and compare the severity of the disease with SHPT.Design and methods: A total of 40 MHPT cases (27 sporadic, seven families) and 169 SHPT patients of Chinese descent were retrospectively analyzed. X-rays and ultrasound were used to assess the bone and urinary sy...

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Bone Abstracts

Genetic and clinical characteristics of Chinese pseudohypoparathyroidism patients

Clinical and genetic analysis of multiple endocrine neoplasia type 1-related primary hyperparathyroidism in Chinese: a single-center experience over ten years

BiosciAbstracts