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Clinical exome sequencing leads to the diagnosis of mitochondrial complex I deficiency in a family with global developmental delays, ataxia, and cerebellar and pons hypoplasia

Date:
Saturday, Jun 8, 2013 12:00am – 12:00pm
Conference:
ESHG 2013
Authors:
E.C. Chao, H. Lu, HM Lu, J.J. Wei, K. Gonzalez, P. Gray, S. Tang, V. Kimonis, W Zeng, X Li
Collaborators:
Poster