TY  - GEN
AU  - Dikoglu,Esra
AU  - Alfaiz,Ali
AU  - Gorna,Maria
AU  - Bertola,Deborah
AU  - Chae,Jong Hee
AU  - Cho,Tae-Joon
AU  - Derbent,Murat
AU  - Alanay,Yasemin
AU  - Guran,Tulay
AU  - Kim,Ok-Hwa
AU  - Llerenar,Juan C
AU  - Yamamoto,Guillerme
AU  - Superti-Furga,Giulio
AU  - Reymond,Alexandre
AU  - Xenarios,Ioannis
AU  - Stevenson,Brian
AU  - Campos-Xavier,Belinda
AU  - Bonafé,Luisa
AU  - Superti-Furga,Andrea
AU  - Unger,Sheila
TI  - Mutations in LONP1, a mitochondrial matrix protease, cause CODAS syndrome
SN  - 1552-4833
PY  - 2016///0317
KW  - ATP-Dependent Proteases
KW  - genetics
KW  - Base Sequence
KW  - Craniofacial Abnormalities
KW  - Exome
KW  - Eye Abnormalities
KW  - Genes, Recessive
KW  - Growth Disorders
KW  - Hip Dislocation, Congenital
KW  - Humans
KW  - Mitochondrial Proteins
KW  - Models, Genetic
KW  - Molecular Sequence Data
KW  - Mutation
KW  - Osteochondrodysplasias
KW  - Sequence Analysis, DNA
KW  - Switzerland
KW  - Tooth Abnormalities
N1  - Publication Type: Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1002/ajmg.a.37029
ER  -