Phenotypic and Imaging Spectrum Associated With WDR45.

Background: Mutations in the X-linked gene WDR45 cause neurodegeneration with brain iron accumulation type 5. Global developmental delay occurs at an early age with slow progression to dystonia, parkinsonism, and dementia due to progressive iron accumulation in the brain.Methods: We present 17 new c...

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Publicado en:	Pediatric Neurology Vol. 109; pp. 56 - 63
Autores principales:	Adang, Laura A., Pizzino, Amy, Malhotra, Alka, Dubbs, Holly, Williams, Catherine, Sherbini, Omar, Anttonen, Anna-Kaisa, Lesca, Gaetan, Linnankivi, Tarja, Laurencin, Chloé, Milh, Matthieu, Perrine, Charles, Schaaf, Christian P., Poulat, Anne-Lise, Ville, Dorothee, Hagelstrom, Tanner, Perry, Denise L., Taft, Ryan J., Goldstein, Amy, Vossough, Arastoo
Formato:	research tables/charts Journal Article
Publicado:	Elsevier B.V. Aug2020
Acceso en línea:	Ver este registro en EBSCOhost