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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:
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