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GNAI2 Activating Variants and MAGIS Syndrome: Long-Term Endocrine and Growth Outcome

2026-07-25

Abstract excerpt

<title>Abstract</title> <p> Context: Germline activating variants in the GNAI2 gene are recently associated with the MAGIS syndrome, characterized by midline malformations of the brain, anterior pituitary gland dysfunction, growth retardation, immunodysregulation, and skeletal defects. However, the full phenotypic spectrum, particularly regarding endocrine dysfunction, remains incompletely defined. Case Descript...

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Literature Corpus work
23518daa-727a-526e-aa0d-876821c49c82
DOI
10.21203/rs.3.rs-10197059/v1
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