Article
POLR3A and POLR3B Mutations in Unclassified Hypomyelination.
Neuropediatrics - 1 Jun 2015
Cayami Ferdy K, La Piana Roberta, van Spaendonk Rosalina M L, Nickel Miriam, Bley Annette, Guerrero Kether, Tran Luan T, van der Knaap Marjo S, Bernard Geneviève, Wolf Nicole I
Abstract excerpt
OBJECTIVE: This study aims to ascertain frequency of mutations in POLR3A or POLR3B, which are associated with 4H leukodystrophy, in a cohort of patients with unclassified hypomyelination. METHODS AND RESULTS: In a cohort of 22 patients with the magnetic resonance imaging (MRI) diagnosis of unclassified hypomyelination and without typical clinical signs, we evaluated clinical and MRI features. Developmental delay...
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