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Updated: Jun 13, 2025

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对下丘脑瘤的遗传洞察:解开体质变异

Lina Sami1, Mathilde Chipaux1, Sarah Ferrand-Sorbets1

  • 1From the Institut du Cerveau-Paris Brain Institute-ICM (L.S., M.D., J.-M.D.S.A., E.L., Sara Baldassari, Stephanie Baulac), Sorbonne Université, Inserm, CNRS, Hôpital de la Pitié Salpêtrière; Department of Pediatric Neurosurgery (M.C., S.F.-S., C.B., E.R., S.R., G.D., R.C.), Rothschild Foundation Hospital EPICARE; Department of Medical Genetics (J.-M.D.S.A., E.L.), AP-HP, Sorbonne Université, Hôpital de la Pitié Salpêtrière; and Université de Paris Cité (H.A.-B.), service d'Anatomie Pathologique, AP-HP, Hôpital Lariboisière, DMU DREAM, Biobank BB-0033-00064, UMR 1141, INSERM, Paris, France.

Neurology. Genetics
|September 9, 2024
PubMed
概括

这项研究确定了下丘脑瘤 (HHs) 的遗传原因,将Shh和乳毛基因的体变异和一种新型基因TNK2与这种罕见的障碍联系起来. 脑组织的遗传检测对于诊断至关重要.

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