Article

Phenotype Correlations of Neurological Manifestations in Wolfram Syndrome: Predictive Modeling in a Spanish Cohort

2025-10-29

Abstract excerpt

<h4>Background: </h4> Wolfram syndrome (WS) is an ultrarrare genetic disorder caused by pathogenic variants in the WFS1 gene, combining endocrine and neurological involvement, leading to progressive neurological, autonomic, and cognitive impairment. Predicting neurological progression remains a clinical challenge, particularly in relation to genotype. <h4>Methods:</h4> Forty-five genetically confirmed patients wit...

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Literature Corpus work: 7ee696a4-3122-5171-8bb8-c9d247b48b0d
DOI: 10.20944/preprints202510.2200.v1

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