Gardner syndrome in a Tunisian family: Identification of a rare APC mutation through targeted NGS

•Our study is the first genetic analysis of a Tunisian family with GS.•A rare APC pathogenic variant was identified in the GS patient by NGS.•Importance of genetic testing for early diagnosis and effective management. Gardner syndrome (GS) is a subtype of familial adenomatous polyposis (FAP) charact...

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Veröffentlicht in:Gene 2025-01, Vol.935, p.149065, Article 149065
Hauptverfasser: Abdelmaksoud-Dammak, Rania, Ammous-Boukhris, Nihel, Guidara, Souhir, Kamoun, Hassen, Gdoura, Hela, Barkia, Baha, Boudabbous, Mouna, Tahri, Nabil, Ameur, Hazem Ben, Boujelbene, Salah, Gargouri, Raja Mokdad
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Sprache:eng
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