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.

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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
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Germline-derived GNAS-Gsα variants associated with both gain-of-function and loss-of-function phenotypes

Tsutomu Ogata, Mami Miyado, Irene Valenzuela, Atilano Carcavilla et al.
2 citations
European Journal of Endocrinology
Blood disorders and treatments
3.63
article

Germline-derived GNAS-Gsα variants associated with both gain-of-function and loss-of-function phenotypes

Tsutomu Ogata, Mami Miyado, Irene Valenzuela, Atilano Carcavilla, Arrate Pereda, María Clemente, Marco Cappa, Fumiko Kato, Guiomar Pérez de Nanclares, Yerai Vado, Giovanna Mantovani, Paolo Cavarzere, Toru Sengoku, I. González Casado, Kazuhiro Ogata, Maki Fukami
article en
2 citations

Abstract

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.

European Journal of EndocrinologyVol. 192(4)
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)
Openalex Percentile: Top 9%
Blood disorders and treatments
3.63
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