Clinical and genetic spectrum of AMPD2-related pontocerebellar hypoplasia type 9

Fanny Kortüm, Rami Abou Jamra, Malik Alawi, Susan A. Berry, Guntram Borck, Katherine L. Helbig, Sha Tang, Dagmar Huhle, Georg Christoph Korenke, Malavika Hebbar, Anju Shukla, Katta M. Girisha, Maja Steinlin, Sandra Waldmeier-Wilhelm, Martino Montomoli, Renzo Guerrini, Johannes R. Lemke, Kerstin Kutsche

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