Triple Genetic Diagnosis in a Patient with Late-Onset Leukodystrophy and Mild Intellectual Disability

Triple Genetic Diagnosis in a Patient with Late-Onset Leukodystrophy and Mild Intellectual Disability

We describe the complex case of a 44-year-old man with polycystic kidney disease, mild cognitive impairment, and tremors in the upper limbs. Brain MRI showed lesions compatible with leukodystrophy. The diagnostic process, which included clinical exome sequencing (CES) and chromosomal microarray anal...

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Bibliographic Details
Main Authors: Domizia Pasquetti, Annalisa Gazzellone, Salvatore Rossi, Daniela Orteschi, Federica Francesca L’Erario, Paola Concolino, Angelo Minucci, Carlo Dionisi-Vici, Maurizio Genuardi, Gabriella Silvestri, Pietro Chiurazzi
Format: Article
Language:English
Published: MDPI AG 2023-12-01
Series:International Journal of Molecular Sciences
Subjects:
polycystic kidney disease
phenylketonuria
leukodystrophy
CES
CMA
intellectual disability
Online Access:https://www.mdpi.com/1422-0067/25/1/495

Internet

https://www.mdpi.com/1422-0067/25/1/495

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