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X-linked disorders with cerebellar dysgenesis
X-linked disorders with cerebellar dysgenesis (XLCD) are a genetically heterogeneous and clinically variable group of disorders in which the hallmark is a cerebellar defect (hypoplasia, atrophy or dysplasia) visible on brain imaging, caused by gene mutations or genomic imbalances on the X-chromosome...
Autores principales: | Zanni, Ginevra, Bertini, Enrico S |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2011
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3115841/ https://www.ncbi.nlm.nih.gov/pubmed/21569638 http://dx.doi.org/10.1186/1750-1172-6-24 |
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