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PDF Availablehttps://doi.org/10.1136/jmg.2008.063693
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Cite Journal: Journal of Medical Genetics |  Publication Date: Feb 27, 2009 |
 Citations: 115 |  License type: open-access |
Background:We describe a severe form of congenital myasthenic syndrome (CMS) associated with congenital nephrosis and ocular malformations caused by two truncating mutations in the gene encoding the laminin β2 subunit...
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