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Diffusion Tensor Magnetic Resonance Imaging in the Analysis of Neurodegenerative Diseases
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[Wolfram-like syndrome: a case report].

B X Zhu1, L Zhang1, H Y Wang1

  • 1Shaanxi Eye Hospital, Xi'an People's Hospital (Xi'an Fourth Hospital), Xi'an 710004, China.

[Zhonghua Yan Ke Za Zhi] Chinese Journal of Ophthalmology
|January 31, 2024
PubMed
Summary
This summary is machine-generated.

Wolfram-like syndrome, an autosomal dominant disorder, presents with vision and hearing loss due to WFS1 gene mutations. This case highlights a de novo mutation in a child diagnosed with this rare condition.

Area of Science:

  • Genetics
  • Ophthalmology
  • Neurology

Background:

  • Wolfram syndrome is typically autosomal recessive, but Wolfram-like syndrome is autosomal dominant.

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  • It is caused by heterozygous mutations in the WFS1 gene.
  • This condition can lead to progressive vision and hearing loss.