Mutant GlialCAM Causes Megalencephalic Leukoencephalopathy with Subcortical Cysts, Benign Familial Macrocephaly, and Macrocephaly with Retardation and Autism

Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a leukodystrophy characterized by early-onset macrocephaly and delayed-onset neurological deterioration. Recessive MLC1 mutations are observed in 75% of patients with MLC. Genetic-linkage studies failed to identify another gene. We...

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Hlavní autoři: López-Hernández, Tania, Ridder, Margreet C., Montolio, Marisol, Capdevila-Nortes, Xavier, Polder, Emiel, Sirisi, Sònia, Duarri, Anna, Schulte, Uwe, Fakler, Bernd, Nunes, Virginia, Scheper, Gert C., Martínez, Albert, Estévez, Raúl, van der Knaap, Marjo S.
Médium: Artigo
Jazyk:Inglês
Vydáno: Elsevier 2011
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On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3071909/
https://ncbi.nlm.nih.gov/pubmed/21419380
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2011.02.009
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