Ontology highlight
ABSTRACT:
SUBMITTER: Royer-Bertrand B
PROVIDER: S-EPMC4657157 | biostudies-literature | 2015
REPOSITORIES: biostudies-literature
Royer-Bertrand Beryl B Castillo-Taucher Silvia S Moreno-Salinas Rodrigo R Cho Tae-Joon TJ Chae Jong-Hee JH Choi Murim M Kim Ok-Hwa OH Dikoglu Esra E Campos-Xavier Belinda B Girardi Enrico E Superti-Furga Giulio G Bonafé Luisa L Rivolta Carlo C Unger Sheila S Superti-Furga Andrea A
Scientific reports 20151124
We and others have reported mutations in LONP1, a gene coding for a mitochondrial chaperone and protease, as the cause of the human CODAS (cerebral, ocular, dental, auricular and skeletal) syndrome (MIM 600373). Here, we delineate a similar but distinct condition that shares the epiphyseal, vertebral and ocular changes of CODAS but also included severe microtia, nasal hypoplasia, and other malformations, and for which we propose the name of EVEN-PLUS syndrome for epiphyseal, vertebral, ear, nose ...[more]