Doors Syndrome: Case Report

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 syn...

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Detalles Bibliográficos
Autores principales: Cebeci, Dua, Rıfkı, Didem
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer - Medknow 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9455087/
https://www.ncbi.nlm.nih.gov/pubmed/36092206
http://dx.doi.org/10.4103/ijd.ijd_676_21
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author Cebeci, Dua
Rıfkı, Didem
author_facet Cebeci, Dua
Rıfkı, Didem
author_sort Cebeci, Dua
collection PubMed
description 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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spelling pubmed-94550872022-09-09 Doors Syndrome: Case Report Cebeci, Dua Rıfkı, Didem Indian J Dermatol Case Report 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. Wolters Kluwer - Medknow 2022 /pmc/articles/PMC9455087/ /pubmed/36092206 http://dx.doi.org/10.4103/ijd.ijd_676_21 Text en Copyright: © 2022 Indian Journal of Dermatology https://creativecommons.org/licenses/by-nc-sa/4.0/This is an open access journal, and articles are distributed under the terms of the Creative Commons Attribution-NonCommercial-ShareAlike 4.0 License, which allows others to remix, tweak, and build upon the work non-commercially, as long as appropriate credit is given and the new creations are licensed under the identical terms.
spellingShingle Case Report
Cebeci, Dua
Rıfkı, Didem
Doors Syndrome: Case Report
title Doors Syndrome: Case Report
title_full Doors Syndrome: Case Report
title_fullStr Doors Syndrome: Case Report
title_full_unstemmed Doors Syndrome: Case Report
title_short Doors Syndrome: Case Report
title_sort doors syndrome: case report
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9455087/
https://www.ncbi.nlm.nih.gov/pubmed/36092206
http://dx.doi.org/10.4103/ijd.ijd_676_21
work_keys_str_mv AT cebecidua doorssyndromecasereport
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