Germline-derived <i>GNAS</i>-Gsα variants associated with both gain-of-function and loss-of-function phenotypes
This study provides further evidence in favour of the existence of germline variants that can cause clinical manifestations of both gain and loss of Gsα function.
Authors
- Tsutomu Ogata (ORCID: https://orcid.org/0000-0001-7178-9991)
- Mami Miyado
- Irene Valenzuela (ORCID: https://orcid.org/0000-0003-2350-6058)
- Atilano Carcavilla (ORCID: https://orcid.org/0000-0003-1735-0237)
- Arrate Pereda (ORCID: https://orcid.org/0000-0002-5442-7873)
- María Clemente (ORCID: https://orcid.org/0000-0002-3721-5043)
- Marco Cappa (ORCID: https://orcid.org/0000-0001-5647-7519)
- Fumiko Kato
- Guiomar Pérez de Nanclares (ORCID: https://orcid.org/0000-0002-2424-5294)
- Yerai Vado (ORCID: https://orcid.org/0000-0003-4156-9159)
- Giovanna Mantovani (ORCID: https://orcid.org/0000-0002-9065-3886)
- Paolo Cavarzere
- Toru Sengoku (ORCID: https://orcid.org/0000-0001-9461-8714)
- I. González Casado (ORCID: https://orcid.org/0000-0001-7447-2914)
- Kazuhiro Ogata (ORCID: https://orcid.org/0000-0003-2952-3027)
- Maki Fukami (ORCID: https://orcid.org/0000-0001-9971-4035)
Institutions
- University of Verona (IT)
- Hebron University (PS)
- Universitat Autònoma de Barcelona (ES)
- University of Milan (IT)
- Hospital Universitario La Paz (ES)
- Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico (IT)
- Hamamatsu University School of Medicine (JP)
- Vall d'Hebron Institut de Recerca (ES)
- Hospital Universitario Araba (ES)
- Bambino Gesù Children's Hospital (IT)
- Vall d'Hebron Hospital Universitari (ES)
- National Center For Child Health and Development (JP)
- Instituto de Investigación de Enfermedades Raras (ES)
- Hamamatsu Medical Center (JP)
- Universidad Autónoma de Madrid (ES)
- Yokohama City University (JP)
- Beppu University (JP)
Publication Details
- Journal
- European Journal of Endocrinology
- Published
- 2025-03-27
- DOI
- https://doi.org/10.1093/ejendo/lvaf006
- Citations
- 2
- Primary Topic
- Blood disorders and treatments
- Type
- article
- Field-Weighted Citation Impact
- 3.63