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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...

Ausführliche Beschreibung

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Bibliografische Detailangaben
Hauptverfasser: Sirmen Kızılcan Çetin, Zeynep Şıklar, Zehra Aycan, Elif Özsu, Serdar Ceylaner, Merih Berberoğlu
Format: Artigo
Sprache:Inglês
Veröffentlicht: Pediatric Endocrinology and Diabetes Society 2026-05-01
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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