Journal article

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

Grants

Awarded by NHMRC


Funding Acknowledgements

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.