Unique presentation of cutis laxa with Leigh-like syndrome due to ECHS1 deficiency
S Balasubramaniam, LG Riley, D Bratkovic, D Ketteridge, N Manton, MJ Cowley, V Gayevskiy, T Roscioli, M Mohamed, T Gardeitchik, E Morava, J Christodoulou
Journal of Inherited Metabolic Disease | SPRINGER | Published : 2017
Awarded by NHMRC
This research was supported by a New South Wales Office of Health and Medical Research Council Sydney Genomics Collaborative grant (JC) and NHMRC project grant 1026891 (JC). We are grateful to the Crane and Perkins families for their generous financial support. The authors confirm independence from the sponsors; the content of the article has not been influenced by the sponsors.