Unique presentation of cutis laxa with Leigh-like syndrome...

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Journal of Inherited Metabolic Disease 2017 / 4

Unique presentation of cutis laxa with Leigh-like syndrome due to ECHS1 deficiency

Balasubramaniam, S., Riley, L. G., Bratkovic, D., Ketteridge, D., Manton, N., Cowley, M. J., Gayevskiy, V., Roscioli, T., Mohamed, M., Gardeitchik, T., Morava, E., Christodoulou, J.
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Language:
english
Journal:
Journal of Inherited Metabolic Disease
DOI:
10.1007/s10545-017-0036-4
Date:
April, 2017
File:
PDF, 517 KB
english, 2017
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