A novel mutation in the proteolytic domain of LONP1 causes atypical CODAS syndrome.

Inui, Takehiko

A novel mutation in the proteolytic domain of LONP1 causes atypical CODAS syndrome. [electronic resource] - Journal of human genetics Jun 2017 - 653-655 p. digital

Publication Type: Case Reports; Journal Article

1435-232X

10.1038/jhg.2017.11 doi


ATP-Dependent Proteases--genetics
Child
Craniofacial Abnormalities--genetics
Exome--genetics
Eye Abnormalities--genetics
Frameshift Mutation--genetics
Genetic Predisposition to Disease
Growth Disorders--genetics
Hip Dislocation, Congenital--genetics
Humans
Intellectual Disability--genetics
Male
Mitochondrial Proteins--genetics
Osteochondrodysplasias--genetics
Protein Domains--genetics
Spinocerebellar Degenerations--genetics
Tooth Abnormalities--genetics