Homozygousdystroglycan mutationassociated with anovelmuscle–eye–braindisease-likephenotype withmulticysticleucodystrophy Tobias GeisKlaus MarquardTanja Rödl2013 год

Homozygous dystroglycan mutation associated with a novel muscle–eye–brain disease-like phenotype with multicystic leucodystrophy
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