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