PMC:5097349 / 16095-17630 JSONTXT

{"project":"AxD_symptoms","denotations":[{"id":"T69","span":{"begin":182,"end":198},"obj":"Phenotype"}],"attributes":[{"id":"A69","pred":"hp_id","subj":"T69","obj":"http://purl.obolibrary.org/obo/HP_0002721"}],"text":"Abbreviations\nAxD Alexander disease\nDNA Deoxyribonucleic acid\nDWI Diffusion Weighted Imaging\nFLAIR Fluid attenuated inversion recovery\nGFAP Glial fibrillary acidic protein\nHIV Human immunodeficiency virus\nMRA Magnetic resonance angiography\nMRI Magnetic resonance imaging\nT1WI T1-weighted imaging\nT2WI T2-weighted imaging\n\nAcknowledgements\nThe authors would like to thank the patient’s family and the Beijing JinZhun Gene Technology Co., Ltd. The work couldn’t be done without their participation and help.\n\nFunding\nWe receive no funding support.\n\nAvailability of data and materials\nNot applicable. For protecting patient privacy.\n\nAuthors’ contributions\nStudy design and drafting of manuscript: YL, XZ. Clinical study perform: YL, XZ, HZ. Genetic analysis: HZ, HW. Acquisition and interpretation of data: YL, XG, AZ, LZ, XL. Critical revision of the manuscript: XH, HW, YL. All authors have read and approved the final manuscript.\n\nCompeting interest\nThe authors declare that they have no competing interests.\n\nConsent for publication\nWritten informed consents were obtained from the patient for publication of this case report and any accompanying images. A copy of the written consent is available for review by the Editor of this journal.\n\nEthics approval and consent to participate\nThis case report has been approved by the Beijing Tiantan Hospital, Capital Medical University’s Research Ethics Board. Written informed consent was obtained from the patient and her families for genetic analysis and publication of this case report."}