Article

Multiple and novel molecular mechanisms in TUBA1A-related tubulinopathy: insights from deep clinical and neuroradiological phenotyping.

2025-03-30

Abstract excerpt

<h4>Purpose: </h4> Heterozygous TUBA1A variants are a well-recognised cause of malformations of cortical development (MCDs). Although existing literature − predominantly radiologically ascertained cohorts − suggests complete penetrance of the MCD phenotype in this condition, there is also anecdotal contrary evidence. Understanding the clinical spectrum of TUBA1A-related disorders informs counselling and clinical d...

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Literature Corpus work: 22cb0ba4-25a7-52b2-be0d-6581fb684816
DOI: 10.1101/2025.03.28.25324751

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