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Article

Clinical Spectrum Associated with Wolfram Syndrome Type 1 and Type 2: A Review on Genotype-Phenotype Correlations.

International journal of environmental research and public health - 30 Apr 2021

Delvecchio Maurizio, Iacoviello Matteo, Pantaleo Antonino, Resta Nicoletta

Abstract excerpt

Wolfram syndrome is a rare neurodegenerative disorder that is typically characterized by diabetes mellitus and optic atrophy. Other common features are diabetes insipidus and hearing loss, but additional less-frequent findings may also be present. The phenotype spectrum is quite wide, and penetrance may be incomplete. The syndrome is progressive, and thus, the clinical picture may change during follow-up....

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Identifiers

PMID: 33946243
DOI: 10.3390/ijerph18094796
PMCID: PMC8124476

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