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The Neurological Core Features of the Infantile-Onset Multisystem Neurologic, Endocrine, and Pancreatic Disease: A Novel Nonsense Mutation in an Italian Family

Alessia Mammi,Alessandro Geroldi,Serena Patrone,Fabio Gotta,Paola Origone,Andrea Gaudio,Andrea La Barbera,Francesca Sanguineri,Clarissa Ponti,Michele Iacomino,Monica Traverso,Edoardo Ferlazzo,Angelo Schenone,Angelo Pascarella,Oreste Marsico,Paola Mandich,Emilia Bellone

JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM（2024）

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关键词
IMNEPD,peripheral neuropathy,PTRH2,sensorineural hearing loss
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