Unraveling a Genetic Puzzle: Could MAP3K7 Be a Candidate Gene for RASopathies?
Noonan syndrome (NS) diagnosis may be challenging because of diverse clinical manifestations. This case report highlights a novel role for MAP3K7 in NS. A 10.4-year-old female patient presented with short stature and clinical findings suggestive of RASopathy. Despite atypical facial features, the pa...
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| Hauptverfasser: | , , , , , |
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| Format: | Artigo |
| Sprache: | Inglês |
| Veröffentlicht: |
Pediatric Endocrinology and Diabetes Society
2026-05-01
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| Schriftenreihe: | JCRPE |
| Schlagworte: | |
| Online-Zugang: | https://www.jcrpe.org/articles/unraveling-a-genetic-puzzle-could-lessemgreatermap3k7lessemgreater-be-a-candidate-gene-for-rasopathies/doi/jcrpe.galenos.2024.2024-3-5 |
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