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Different AHO phenotype in a Chinese family with a novel GNAS missense variant: a case report

Abstract Background Albright's hereditary osteodystrophy (AHO) is an inherited disorder which is caused by an inactivating variant in the GNAS gene. AHO appears associated to either pseudohypoparathyroidism 1a (PHP1a) when GNAS gene is maternally inherited or to pseudo-pseudohypoparathyroidism...

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Main Authors:	Qing Zhou (Author), Bin Liang (Author), Qing-Xian Fu (Author), Hui Liu (Author), Chao-Chun Zou (Author)
Format:	Book
Published:	BMC, 2022-07-01T00:00:00Z.
Subjects:	article
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