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...

Полное описание

Сохранить в:
Библиографические подробности
Опубликовано в: :Neurology
Главные авторы: 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
Формат: Artigo
Язык:Inglês
Опубликовано: Lippincott Williams & Wilkins 2014
Предметы:
Article
Online-ссылка: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
Метки: Добавить метку
Нет меток, Требуется 1-ая метка записи!

Схожие документы