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...

पूर्ण विवरण

में बचाया:
ग्रंथसूची विवरण
में प्रकाशित:Neurol Genet
मुख्य लेखकों: 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
स्वरूप: Artigo
भाषा:Inglês
प्रकाशित: Wolters Kluwer 2018
विषय:
Article
ऑनलाइन पहुंच: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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