Identification of a novel GNAS mutation in a case of pseudohypoparathyroidism type 1A with normocalcemia

Identification of a novel GNAS mutation in a case of pseudohypoparathyroidism type 1A with normocalcemia

Abstract Background Pseudohypoparathyroidism type 1A (PHP1A) is a rare genetic disease primarily characterized by resistance to parathyroid hormone along with hormonal resistance and other features of Albright hereditary osteodystrophy (AHO). It is caused by heterozygous inactivating mutations in th...

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Bibliographic Details
Main Authors: Xiao-dan Long, Jing Xiong, Zhao-hui Mo, Chang-sheng Dong, Ping Jin
Format: Article
Language:English
Published: BMC 2018-07-01
Series:BMC Medical Genetics
Subjects:
Pseudohypoparathyroidism type 1A
GNAS gene
Stimulatory G-protein alpha subunit
Mutation
Online Access:http://link.springer.com/article/10.1186/s12881-018-0648-z

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