Article
Leukodystrophy with disorders of sex development due to WT1 mutations.
Journal of the neurological sciences - 15 Jul 2018
Souza Paulo Victor Sgobbi, Badia Bruno Mattos Lombardi, Silva Luiz Henrique Libardi, Teixeira Carlos Alberto Castro, Seneor Daniel Delgado, Marin Vitor Dias Gomes Barrios, Farias Igor Braga, Dias Renan Braido, Oliveira Acary Souza Bulle, Pinto Wladimir Bocca Vieira Rezende
Abstract excerpt
BACKGROUND: Hypomyelinating leukodystrophies represent an expanding group of neurogenetic disorders characterized primarily by central nervous system hypomyelination and variable neurological and non-neurological involvement. Hypomyelinating disorders have been rarely associated with gonadal dysfunction, being mainly represented by hypogonadotrophic hypogonadism in 4H syndrome. WT1 gene-associated disorders are...
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