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

Iwasaki Y, Reyes M, Molin A, Muurinen M, Kottler ML, Bastepe M, Jüppner H

DOI: 10.1172/jci.insight.194754
Published: 2025 Oct 8
Container: JCI insight
Publisher: Not recorded
Open access: yes

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Cite this work

BibTeX

@article{allodium:10.1172/jci.insight.194754,
  title = {Defective GNAS imprinting due to splice site variants in pseudohypoparathyroidism type 1B.},
  author = {Iwasaki Y and Reyes M and Molin A and Muurinen M and Kottler ML and Bastepe M and Jüppner H},
  year = {2025},
  journal = {JCI insight},
  doi = {10.1172/jci.insight.194754},
  url = {https://doi.org/10.1172/jci.insight.194754}
}

RIS

TY  - JOUR
TI  - Defective GNAS imprinting due to splice site variants in pseudohypoparathyroidism type 1B.
AU  - Iwasaki Y
AU  - Reyes M
AU  - Molin A
AU  - Muurinen M
AU  - Kottler ML
AU  - Bastepe M
AU  - Jüppner H
PY  - 2025
JO  - JCI insight
DO  - 10.1172/jci.insight.194754
UR  - https://doi.org/10.1172/jci.insight.194754
ER  -

APA

Y, I., M, R., A, M., M, M., ML, K., M, B., & H, J. (2025). Defective GNAS imprinting due to splice site variants in pseudohypoparathyroidism type 1B.. JCI insight. https://doi.org/10.1172/jci.insight.194754

Source records

pubmed · retrieved 2026-09-25T19:39:41.559Z