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
10.3389/fneur.2023.878446
Front Neurol
2023 Jun 29;14:878446.
aars2 aars2 leukoencephalopathy adult-onset leukodystrophy alanyl-transfer rna synthetase 2 mutation-related leukodystrophy early-onset dementia mitochondrial aminoacyl-trna synthetase progressive leukoencephalopathy with ovarian failure uterus infantilis
CC BY
https://pubmed.ncbi.nlm.nih.gov/37456626/
Case Reports
PMC10343430
37456626
Uterus infantilis: a novel phenotype associated with AARS2 new genetic variants. A case report
2023