Associated Papers
Inactivating GNAS complex locus variants impair G protein-coupled receptor signaling and cause multiple suture craniosynostosis in humans and zebrafish.
Yan Q et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2026
Pathogenic variants of the GNAS gene introduce an abnormal amino acid sequence in the β6 strand/α5 helix of Gsα, causing pseudohypoparathyroidism type 1A and pseudopseudohypoparathyroidism in two unrelated Japanese families.
Ohata Y et al.
Bone Reports, 2022
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