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...

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Bibliografiske detaljer
Udgivet i:BMJ Case Rep
Main Authors: DiFrancesco, Jacopo C, Isimbaldi, Giuseppe, Bedeschi, Maria Francesca, Castellotti, Barbara
Format: Artigo
Sprog:Inglês
Udgivet: BMJ Publishing Group 2018
Fag:
Unusual Association of Diseases/Symptoms
Online adgang: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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