Expanding the Knowledge of KIF1A-Dependent Disorders to a Group of Polish Patients.

Justyna Paprocka,Aleksandra Jezela-Stanek,Robert Śmigiel,Anna Walczak,Hanna Mierzewska,Anna Kutkowska-Kaźmierczak,Rafał Płoski,Ewa Emich-Widera,Barbara Steinborn

Genes（2023）

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摘要

The authors underlined the difficulties in classifying particular syndromes due to non-specific and overlapping signs and symptoms, sometimes observed only temporarily.

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关键词

KIF1A,neurodegeneration,SPG30,HSN2C,NESCAV,children

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