Neurodegeneration as the presenting symptom in 2 adults with xeroderma pigmentosum complementation group F

OBJECTIVE: To describe the features of 2 unrelated adults with xeroderma pigmentosum complementation group F (XP-F) ascertained in a neurology care setting. METHODS: We report the clinical, imaging, molecular, and nucleotide excision repair (NER) capacity of 2 middle-aged women with progressive neur...

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Bibliografske podrobnosti
izdano v:Neurol Genet
Main Authors: Shanbhag, Niraj M., Geschwind, Michael D., DiGiovanna, John J., Groden, Catherine, Godfrey, Rena, Yousefzadeh, Matthew J., Wade, Erin A., Niedernhofer, Laura J., Malicdan, May Christine V., Kraemer, Kenneth H., Gahl, William A., Toro, Camilo
Format: Artigo
Jezik:Inglês
Izdano: Wolters Kluwer 2018
Teme:
Article
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC5994703/
https://ncbi.nlm.nih.gov/pubmed/29892709
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/NXG.0000000000000240
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