Defective GNAS imprinting due to splice site variants in pseudohypoparathyroidism type 1B
Yorihiro Iwasaki, … , Murat Bastepe, Harald Jüppner
Yorihiro Iwasaki, … , Murat Bastepe, Harald Jüppner
Published September 2, 2025
Citation Information: JCI Insight. 2025;10(19):e194754. https://doi.org/10.1172/jci.insight.194754.
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Research Letter Endocrinology Genetics

Defective GNAS imprinting due to splice site variants in pseudohypoparathyroidism type 1B

Abstract

Authors

Yorihiro Iwasaki, Monica Reyes, Arnaud Molin, Mari Muurinen, Marie-Laure Kottler, Murat Bastepe, Harald Jüppner

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