NRXN1-related disorders, attempt to better define clinical assessment

NRXN1-related disorders are uncommonly reported. The clinical features of the disorders are wide and heterogeneous mainly consisting of undistinctive facial dysmorphism, mild to severe intellectual and speech delay, epileptic seizures, and motor dysfunction. Defects in NRXN1 gene have been identifie...

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Bibliographic Details
Main Authors: Pavone Piero, Pappalardo Xena Giada, Parano Claudia, Falsaperla Raffaele, Corsello Antonio, Parano Enrico, Polizzi Agata, Ruggieri Martino
Format: Article
Language:English
Published: De Gruyter 2024-12-01
Series:Open Medicine
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Online Access:https://doi.org/10.1515/med-2024-0979
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