Subject
Radiology, Nuclear Medicine and imaging
Reference15 articles.
1. Mutations in LONP1, a mitochondrial matrix protease, cause CODAS syndrome;Dikoglu;Am J Med Genet Part A,2015
2. Newly recognized syndrome of cerebral, ocular, dental, auricular, skeletal anomalies: CODAS syndrome—a case report;Shebib;Am J Med Genet,1991
3. Mutations in the heat-shock protein A9 (HSPA9) gene cause the EVEN-PLUS syndrome of congenital malformations and skeletal dysplasia;Royer-Bertrand;Sci Rep,2015
4. Confirmation of CAGSSS syndrome as a distinct entity in a Danish patient with a novel homozygous mutation in IARS2;Moosa;Am J Med Genet Part A,2017
5. LONP1 de novo dominant mutation causes mitochondrial encephalopathy with loss of LONP1 chaperone activity and excessive LONP1 proteolytic activity;Besse;Mitochondrion,2020