Article
Mutations in LONP1, a mitochondrial matrix protease, cause CODAS syndrome.
American journal of medical genetics. Part A - 1 Jul 2015
Dikoglu Esra, Alfaiz Ali, Gorna Maria, Bertola Deborah, Chae Jong Hee, Cho Tae-Joon, Derbent Murat, Alanay Yasemin, Guran Tulay, Kim Ok-Hwa, Llerenar Juan C, Yamamoto Guillerme, Superti-Furga Giulio, Reymond Alexandre, Xenarios Ioannis, Stevenson Brian, Campos-Xavier Belinda, Bonafé Luisa, Superti-Furga Andrea, Unger Sheila
Abstract excerpt
Cerebral, ocular, dental, auricular, skeletal anomalies (CODAS) syndrome (MIM 600373) was first described and named by Shehib et al, in 1991 in a single patient. The anomalies referred to in the acronym are as follows: cerebral-developmental delay, ocular-cataracts, dental-aberrant cusp morphology and delayed eruption, auricular-malformations of the external ear, and skeletal-spondyloepiphyseal dysplasia. This...
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