Article

Parental origin of Gsα inactivation differentially affects bone remodeling in a mouse model of Albright hereditary osteodystrophy

2021-07-27

Abstract excerpt

Albright hereditary osteodystrophy (AHO) is caused by heterozygous inactivation of GNAS , a complex locus that encodes the alpha-stimulatory subunit of GPCRs (Gsα) in addition to NESP55 and XL α s due to alternative first exons. AHO skeletal manifestations include brachydactyly, brachymetacarpia, compromised adult stature, and subcutaneous ossifications. AHO patients with maternally-inherited GNAS mutations d...

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Literature Corpus work: 7ef599ca-0ef3-58e9-abad-b3b6323530a4
DOI: 10.1101/2021.07.27.453811

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