Uterus infantilis: a novel phenotype associated with AARS2 new genetic variants. A case report

OBJECTIVES: To report the first Mexican case with two novel AARS2 mutations causing primary ovarian failure, uterus infantilis, and early-onset dementia secondary to leukoencephalopathy. METHODS: Detailed clinical, clinimetric, neuroimaging features, muscle biopsy with biochemical assays of the main...

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Detalles Bibliográficos
Autores principales: Kazakova, Ekaterina, Téllez-Martínez, José Alberto, Flores-Lagunes, Leonardo, Sosa-Ortiz, Ana Luisa, Carillo-Sánchez, Karol, Molina-Garay, Carolina, González-Domínguez, Carlos Alberto, Jimenez-Olivares, Marco, Fernandez-Valverde, Francisca, Vargas-Cañas, Edwin Steven, Vázquez-Memije, Martha Elisa, Garcia-Latorre, Ethel Awilda, Martínez-Duncker, Iván, Alaez-Verson, Carmen
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Neurology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10343430/
https://www.ncbi.nlm.nih.gov/pubmed/37456626
http://dx.doi.org/10.3389/fneur.2023.878446

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10343430/
https://www.ncbi.nlm.nih.gov/pubmed/37456626
http://dx.doi.org/10.3389/fneur.2023.878446

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