Clinical spectrum and uncommon features of McCune-Albright syndrome in children: a cohort study from a National Referral Center
IntroductionMcCune-Albright syndrome (MAS) is a rare disease caused by somatic gain-of-function variants in the GNAS gene that lead to constitutive activation of the G protein alpha subunit (Gsα). Pathologic consequences can involve several tissues. Fibrous dysplasia (FD), café-au-lait skin macules...
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| Main Authors: | Solène Bergignat, Roland Chapurlat, Marc Nicolino, Kevin Perge |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Frontiers Media S.A.
2025-02-01
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| Series: | Frontiers in Endocrinology |
| Subjects: | |
| Online Access: | https://www.frontiersin.org/articles/10.3389/fendo.2025.1531765/full |
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