Case report: Structural brain abnormalities in TUBA1A -tubulinopathies: a narrative review.

Piero Pavone,Pasquale Striano,Giovanni Cacciaguerra,Simona Domenica Marino,Enrico Parano,Xena Giada Pappalardo,Raffaele Falsaperla,Martino Ruggieri

Frontiers in pediatrics（2023）

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摘要

A range of clinical manifestations related to different cerebral structures involved may be observed in patients with -tubulinopathy. Genotype-phenotype correlations are discussed here. Individuals with cortical and subcortical anomalies should be screened also for pathogenic variants in .

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关键词

structural brain abnormalities,a-tubulinopathies

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