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Article

Broadening the spectrum phenotype of TBCE-related neuron neurodegeneration.

Brain & development - 1 Oct 2021

Battini Roberta, Milone Roberta, Aiello Chiara, Astrea Guja, Sferra Antonella, Pasquariello Rosa, Cioni Giovanni, Bertini Enrico

Abstract excerpt

BACKGROUND: Severe loss of TBCE function has been related to two well-known dysmorphic syndromes, while TBCE hypomorphic variants have been linked to neurodegenerative conditions due to perturbed microtubule dynamics and homeostasis, with signs of central and peripheral nervous system involvement. METHOD: We report on an Italian female originating from Southern Italy who presented early-onset regression and...

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Identifiers

PMID: 34134906
DOI: 10.1016/j.braindev.2021.05.015

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