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)

Tyler Mark Pierson, Thomas Markello, John Accardi, Lynne Wolfe, David Adams, Murat Sincan, Noor M. Tarazi, Karin Fuentes Fajardo, Praveen F. Cherukuri, Ilda Bajraktari, Katy G. Meilleur, Sandra Donkervoort, Mina Jain, Ying Hu, Tanya J. Lehky, Pedro Cruz, James C. Mullikin, Carsten Bonnemann, William A. Gahl, Cornelius F. BoerkoelCynthia J. Tifft

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