Unique presentation of cutis laxa with Leigh-like syndrome due to ECHS1 deficiency-Reference-Cited by-同舟云学术

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

Published:2017-04-13 Issue:5 Volume:40 Page:745-747
ISSN:0141-8955
Container-title:Journal of Inherited Metabolic Disease
language:en
Short-container-title:J Inherit Metab Dis

Author:

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.

Funder

New South Wales Office of Health and Medical Research Council Sydney Genomics Collaborative grant

NHMRC project grant

Crane and Perkins families

Netherlands Organisation for Scientific Research

Dutch Stofwisselkracht foundation

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://link.springer.com/article/10.1007/s10545-017-0036-4/fulltext.html

Reference3 articles.

1. Ferdinandusse S, Friederich MW, Burlina A et al (2015) Clinical and biochemical characterization of four patients with mutations in ECHS1. Orphanet Journal of Rare Diseases 10:79

2. Mohamed M, Kouwenberg D, Gardeitchik T et al (2011) Metabolic cutis laxa syndromes. J Inherit Metab Dis 34:907–916

3. Tetreault M, Fahiminiya S, Antonicka H et al (2015) Whole‑exome sequencing identifies novel ECHS1 mutations in Leigh syndrome. Hum Genet 134:981–991

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