Clinical and Molecular Findings of Tunisian Patients with RASopathies

Noonan syndrome (NS) and related disorders, which are now summarized under the term RASopathies, are caused by germline mutations in genes encoding protein components of the Ras/mitogen-activated protein kinase pathway. In this study, we evaluated the clinical and molecular spectrum of 21 Tunisian p...

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Autors principals: Louati, Rim, Abdelmoula, N. Bouayed, Trabelsi, Imen, Abid, Dorra, Lissewski, Christina, Kharrat, Najla, Kamoun, Samir, Zenker, Martin, Rebai, Tarek
Format: Artigo
Idioma:Inglês
Publicat: S. Karger AG 2014
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Original Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC4188152/
https://ncbi.nlm.nih.gov/pubmed/25337068
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1159/000362898
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