Clinical spectrum of 4H leukodystrophy caused by POLR3A and POLR3B mutations

OBJECTIVE: To study the clinical and radiologic spectrum and genotype–phenotype correlation of 4H (hypomyelination, hypodontia, hypogonadotropic hypogonadism) leukodystrophy caused by mutations in POLR3A or POLR3B. METHODS: We performed a multinational cross-sectional observational study of the clin...

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Bibliografski detalji
Izdano u:Neurology
Glavni autori: Wolf, Nicole I., Vanderver, Adeline, van Spaendonk, Rosalina M.L., Schiffmann, Raphael, Brais, Bernard, Bugiani, Marianna, Sistermans, Erik, Catsman-Berrevoets, Coriene, Kros, Johan M., Pinto, Pedro Soares, Pohl, Daniela, Tirupathi, Sandya, Strømme, Petter, de Grauw, Ton, Fribourg, Sébastien, Demos, Michelle, Pizzino, Amy, Naidu, Sakkubai, Guerrero, Kether, van der Knaap, Marjo S., Bernard, Geneviève
Format: Artigo
Jezik:Inglês
Izdano: Lippincott Williams & Wilkins 2014
Teme:
Article
Online pristup:https://ncbi.nlm.nih.gov/pmc/articles/PMC4248461/
https://ncbi.nlm.nih.gov/pubmed/25339210
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/WNL.0000000000001002
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