Publication | Open Access

Novel SNP array analysis and exome sequencing detect a homozygous exon 7 deletion of MEGF10 causing early onset myopathy, areflexia, respiratory distress and dysphagia (EMARDD)

Genetic DisorderExome SequencingGeneticsRespiratory DistressMedicinePathologyEarly Onset MyopathyMedical GeneticsDisease Gene IdentificationMolecular DiagnosticsBioinformatics