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Case report: Mohr-Tranebjaerg syndrome: hearing impairment as the onset of an insidious disorder with high recurrence risk
Mohr-Tranebjaerg syndrome (MTS) is an X-linked recessive disorder caused by TIMM8A loss of function. It is characterized by sensorineural hearing loss in childhood, progressive optic atrophy in early adulthood, early onset dementia and psychiatric symptoms of variable expressivity. We present a fami...
Autores principales: | Sousa, Eulalia, Abreu, Maria, Tkachenko, Nataliya, Rocha, João, Falcão Reis, Cláudia |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Frontiers Media S.A.
2023
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10267341/ https://www.ncbi.nlm.nih.gov/pubmed/37325222 http://dx.doi.org/10.3389/fneur.2023.1161940 |
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