Uterus infantilis: a novel phenotype associated with AARS2 new genetic variants. A case report
ObjectivesTo report the first Mexican case with two novel AARS2 mutations causing primary ovarian failure, uterus infantilis, and early-onset dementia secondary to leukoencephalopathy.MethodsDetailed clinical, clinimetric, neuroimaging features, muscle biopsy with biochemical assays of the main oxid...
Main Authors: | Ekaterina Kazakova, José Alberto Téllez-Martínez, Leonardo Flores-Lagunes, Ana Luisa Sosa-Ortiz, Karol Carillo-Sánchez, Carolina Molina-Garay, Carlos Alberto González-Domínguez, Marco Jimenez-Olivares, Francisca Fernandez-Valverde, Edwin Steven Vargas-Cañas, Martha Elisa Vázquez-Memije, Ethel Awilda Garcia-Latorre, Iván Martínez-Duncker, Carmen Alaez-Verson |
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Format: | Article |
Language: | English |
Published: |
Frontiers Media S.A.
2023-06-01
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Series: | Frontiers in Neurology |
Subjects: | |
Online Access: | https://www.frontiersin.org/articles/10.3389/fneur.2023.878446/full |
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