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Doors Syndrome: Case Report.

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.

SUBMITTER: Cebeci D

PROVIDER: S-EPMC9455087 | biostudies-literature | 2022 Mar-Apr

REPOSITORIES: biostudies-literature

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Doors Syndrome: Case Report.

Cebeci Dua D Rıfkı Didem D

Indian journal of dermatology 20220301 2

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. ...[more]

PMID: 36092206

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