Phenotype Spectrum of TRPM3-Associated Disorders

Monoallelic variants in the transient receptor potential melastatin-related type 3 gene (TRPM3) have been associated with neurodevelopmental manifestations, but knowledge on the clinical manifestations and treatment options is limited. We characterized the clinical spectrum, highlighting particularl...

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Veröffentlicht in:	Annals of neurology 2025-01
Hauptverfasser:	Jolitz, Laura, Helbig, Ingo, Fitzgerald, Mark P, McKeown Ruggiero, Sarah, Cohen, Stacey, Angelini, Chloe, Vallespin, Elena, Michaud, Vincent, Gerasimenko, Anna, Cogne, Benjamin, Isidor, Bertrand, Keren, Boris, Dyment, David, Heron, Delphine, Karstensen, Helena Gásdal, Cuppen, Inge, Christodoulou, John, Wilson, Meredith, Lake, Nicole J, Biskup, Saskia, Syrbe, Steffen, Mori, Takayasu, Becker, Lena-Luise, Kaindl, Angela M
Format:	Artikel
Sprache:	eng
Online-Zugang:	Volltext
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