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Author

Ghada Hijazi

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Review Open access Sep 2026

The Evaluation of Molecular Genetics and Clinical Manifestations in Patients With LZTR1-Associated Noonan Syndrome: A Retrospective Chart Review and Review of Literature.

The cohort highlights novel findings, including the co-occurrence of AD LZTR1-NS with 22q11.2 deletion and two patients with AR NS with features suggestive of schwannomatosis, which expand the clinical spectrum of LZTR1-NS and have important implications for diagnosis, surveillance, and genetic counseling.

H. Jaouadi, Şakir Hicazi, Carolyn R. Raski et al. · 0 citations

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