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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Pubblicato in:Neurology
Autori principali: 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
Natura: Artigo
Lingua:Inglês
Pubblicazione: Lippincott Williams & Wilkins 2014
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Article
Accesso online: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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