Unique presentation of cutis laxa with Leigh-like syndrome due to ECHS1 deficiency
S. Balasubramaniam, L. G. Riley, D. Bratkovic, D. Ketteridge, N. Manton, M. J. Cowley, V. Gayevskiy, T. Roscioli, M. Mohamed, T. Gardeitchik, E. Morava, J. Christodoulou
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