Uterus infantilis: a novel phenotype associated with AARS2 new genetic variants. A case report
Ekaterina Kazakova,
José Alberto Téllez-Martínez,
Leonardo Flores-Lagunes
et al.
Abstract: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 oxidative phosphorylation complexes activities, and molecular studies were performed on samples from a Mexican female.ResultsWe present a 41-year-old female patient with learning difficulties since childhood and primary… Show more
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