Unraveling the Genetic Puzzle: Could MAP3K7 Be a Candidate Gene for RASopathies? Case Presentation

Noonan Syndrome (NS) diagnosis is challenging due to diverse clinical manifestations. Here, our case report highlights 's novel role in NS. A 10.4-year-old female patient presented with short stature and suggestive clinical findings of RASopathy. Despite atypical facial features, the patient me...

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Veröffentlicht in:Journal of clinical research in pediatric endocrinology 2024-10
Hauptverfasser: Kizilcan Cetin, Sirmen, Siklar, Zeynep, Aycan, Zehra, Ozsu, Elif, Ceylaner, Serdar, Berberoğlu, Merih
Format: Artikel
Sprache:eng
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