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...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:Neurology
Prif Awduron: 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
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: Lippincott Williams & Wilkins 2014
Pynciau:
Article
Mynediad Ar-lein: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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