TY  - GEN
AU  - Inui,Takehiko
AU  - Anzai,Mai
AU  - Takezawa,Yusuke
AU  - Endo,Wakaba
AU  - Kakisaka,Yosuke
AU  - Kikuchi,Atsuo
AU  - Onuma,Akira
AU  - Kure,Shigeo
AU  - Nishino,Ichizo
AU  - Ohba,Chihiro
AU  - Saitsu,Hirotomo
AU  - Matsumoto,Naomichi
AU  - Haginoya,Kazuhiro
TI  - A novel mutation in the proteolytic domain of LONP1 causes atypical CODAS syndrome
SN  - 1435-232X
PY  - 2018///0118
KW  - ATP-Dependent Proteases
KW  - genetics
KW  - Child
KW  - Craniofacial Abnormalities
KW  - Exome
KW  - Eye Abnormalities
KW  - Frameshift Mutation
KW  - Genetic Predisposition to Disease
KW  - Growth Disorders
KW  - Hip Dislocation, Congenital
KW  - Humans
KW  - Intellectual Disability
KW  - Male
KW  - Mitochondrial Proteins
KW  - Osteochondrodysplasias
KW  - Protein Domains
KW  - Spinocerebellar Degenerations
KW  - Tooth Abnormalities
N1  - Publication Type: Case Reports; Journal Article
UR  - https://doi.org/10.1038/jhg.2017.11
ER  -