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Biopsy-proven multiple sclerosis in an adult patient with atypical craniometaphyseal dysplasia

Craniometaphyseal dysplasia (CMD) is a rare condition characterised by progressive, diffuse hyperostosis of cranial and long bones, with compression of cranial nerves, linked to mutations in ANKH or GJA1 genes. Here we describe an adult case with clinical features of CMD, who developed cerebral expa...

詳細記述

保存先:
書誌詳細
出版年:BMJ Case Rep
主要な著者: DiFrancesco, Jacopo C, Isimbaldi, Giuseppe, Bedeschi, Maria Francesca, Castellotti, Barbara
フォーマット: Artigo
言語:Inglês
出版事項: BMJ Publishing Group 2018
主題:
オンライン・アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC5847834/
https://ncbi.nlm.nih.gov/pubmed/29444796
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/bcr-2017-223390
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