A novel remitting leukodystrophy associated with a variant in FBP2

Leukodystrophies are genetic disorders of cerebral white matter that almost exclusively have a progressive disease course. We became aware of three members of a family with a disorder characterized by a sudden loss of all previously acquired abilities around 1 year of age followed by almost complete...

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Detaylı Bibliyografya
Yayımlandı:Brain Commun
Asıl Yazarlar: Gizak, Agnieszka, Diegmann, Susann, Dreha-Kulaczewski, Steffi, Wiśniewski, Janusz, Duda, Przemysław, Ohlenbusch, Andreas, Huppke, Brenda, Henneke, Marco, Höhne, Wolfgang, Altmüller, Janine, Thiele, Holger, Nürnberg, Peter, Rakus, Dariusz, Gärtner, Jutta, Huppke, Peter
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Oxford University Press 2021
Konular:
Original Article
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC8097510/
https://ncbi.nlm.nih.gov/pubmed/33977262
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/braincomms/fcab036
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