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Doors Syndrome: Case Report
1Department of Dermatology, Famagusta State Hospital, Famagusta, Cyprus.
Insights
DOORS syndrome is a rare genetic disorder affecting the nervous system and metabolism. This case study highlights a patient diagnosed with DOORS syndrome, presenting with toe anonychia and other symptoms.
Area of Science:
- Genetics
- Neurology
- Metabolic Disorders
Background:
- DOORS syndrome is an autosomal recessive genetic neurometabolic disorder.
- It affects both males and females equally.
- TBC1D24 mutations are a significant cause of DOORS syndrome.
Abstract:
DOORS syndrome is an autosomal recessive genetic neurometabolic disorder. It occurs equally in men and women. Major causes include TBC1D 24 mutations and genetic factors. Here, we discuss a 23-year-old male patient who applied to our clinic with anonychia of the toes and was diagnosed with DOORS syndrome with other accompanying clinical symptoms.
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