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

Pubmed ID: 
28409271
Year: 
2017
Month: 
Sep
Volume: 
40
Issue: 
5
Citation: 
Balasubramaniam S, Riley LG, Bratkovic D, Ketteridge D, Manton N, Cowley MJ, Gayevskiy V, Roscioli T, Mohamed M, Gardeitchik T, Morava E, Christodoulou J. Unique presentation of cutis laxa with Leigh-like syndrome due to ECHS1 deficiency. JOURNAL OF INHERITED METABOLIC DISEASE 40 (5) : 745 - 747(2017) PubMed