Congenital myasthenic syndrome associated with epidermolysis bullosa caused by homozygous mutations in PLEC1 and CHRNE

Ricardo A Maselli, J. Arredondo, O. Cagney, T. Mozaffar, S. Skinner, S. Yousif, Rr Davis, Jeffrey Gregg, M. Sivak, Thomas Konia, K. Thomas, Rl Wollmann

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26 Scopus citations

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Medicine & Life Sciences