Periodontal Ehlers–Danlos syndrome is associated with leukoencephalopathy
Author:
Funder
Austrian Science Fund
Dutch ZonMw TOP
Publisher
Springer Science and Business Media LLC
Subject
Cellular and Molecular Neuroscience,Genetics (clinical),Genetics
Link
http://link.springer.com/content/pdf/10.1007/s10048-018-0560-x.pdf
Reference26 articles.
1. Kapferer-Seebacher I, Pepin M, Werner R, Aitman TJ, Nordgren A, Stoiber H, Thielens N, Gaboriaud C, Amberger A, Schossig A, Gruber R, Giunta C, Bamshad M, Bjorck E, Chen C, Chitayat D, Dorschner M, Schmitt-Egenolf M, Hale CJ, Hanna D, Hennies HC, Heiss-Kisielewsky I, Lindstrand A, Lundberg P, Mitchell AL, Nickerson DA, Reinstein E, Rohrbach M, Romani N, Schmuth M, Silver R, Taylan F, Vandersteen A, Vandrovcova J, Weerakkody R, Yang M, Pope FM, Molecular Basis of Periodontal EDSC, Byers PH, Zschocke J (2016) Periodontal Ehlers-Danlos syndrome is caused by mutations in C1R and C1S, which encode subcomponents C1r and C1s of complement. Am J Hum Genet 99(5):1005–1014. https://doi.org/10.1016/j.ajhg.2016.08.019
2. Lacroix M, Tessier A, Dumestre-Perard C, Vadon-Le Goff S, Gout E, Bruckner-Tuderman L, Kiritsi D, Nystrom A, Ricard-Blum S, Moali C, Hulmes DJS, Thielens NM (2017) Interaction of complement defence collagens C1q and mannose-binding lectin with BMP-1/tolloid-like proteinases. Sci Rep 7(1):16958. https://doi.org/10.1038/s41598-017-17318-w
3. Castori M, Voermans NC (2014) Neurological manifestations of Ehlers-Danlos syndrome(s): a review. Iran J Neurol 13(4):190–208
4. Echaniz-Laguna A, de Saint-Martin A, Lafontaine AL, Tasch E, Thomas P, Hirsh E, Marescaux C, Andermann F (2000) Bilateral focal polymicrogyria in Ehlers-Danlos syndrome. Arch Neurol 57(1):123–127
5. Ezzeddine H, Sabouraud P, Eschard C, El Tourjuman O, Bednarek N, Motte J (2005) Bilateral frontal polymicrogyria and Ehlers-Danlos syndrome. Arch Pediatr 12(2):173–175. https://doi.org/10.1016/j.arcped.2004.11.021
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