Predominant neurological phenotype in a Hungarian family with two novel mutations in the XPA gene—case series

被引：0
作者：
Dénes Zádori
László Szpisjak
István Balázs Németh
Zita Reisz
Gabor G. Kovacs
Noémi Szépfalusi
Viola Luca Németh
Zoltán Maróti
Edit Tóth-Molnár
Judit Oláh
László Vécsei
Péter Klivényi
Tibor Kalmár
机构：
[1] University of Szeged,Department of Neurology, Faculty of Medicine, Albert Szent
[2] University of Szeged,Györgyi Clinical Center
[3] University of Szeged,Department of Dermatology and Allergology, Faculty of Medicine, Albert Szent
[4] Medical University of Vienna,Györgyi Clinical Center
[5] University of Szeged,Department of Pathology, Faculty of Medicine, Albert Szent
[6] University of Szeged,Györgyi Clinical Center
[7] University of Szeged,Institute of Neurology
[8] University of Szeged,Genetic Diagnostic Laboratory, Department of Pediatrics and Pediatric Health Center
来源：
Neurological Sciences | 2020年 / 41卷
关键词：
Xeroderma pigmentosum group A; Neurological; Ataxia; Parkinsonism; Cognitive; Neuropathology;
D O I：
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中图分类号：
学科分类号：
摘要：
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收藏
页码：125 / 129
页数：4
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