Congenital myasthenic syndrome associated with epidermolysis bullosa caused by homozygous mutations in PLEC1 and CHRNE
Maselli, RA, Arredondo, J, Cagney, O, Mozaffar, T, Skinner, S, Yousif, S, Davis, RR, Gregg, JP, Sivak, M, Konia, TH, Thomas, K, Wollmann, RL
Published in Clinical genetics (01.11.2011)
Published in Clinical genetics (01.11.2011)
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