Associated Papers
Targeted Next-Generation Sequencing Identifies Pathogenic Variants in Diabetic Kidney Disease.
Lazaro-Guevara J et al.
American Journal of Nephrology, 2021
Novel mutations in the ciliopathy-associated gene CPLANE1 (C5orf42) cause OFD syndrome type VI rather than Joubert syndrome.
Bonnard C et al.
European Journal of Medical Genetics, 2018
Clinical and experimental evidence suggest a link between KIF7 and C5orf42-related ciliopathies through Sonic Hedgehog signaling.
Asadollahi R et al.
European Journal of Human Genetics : Ejhg, 2018
Fifteen years of research on oral-facial-digital syndromes: from 1 to 16 causal genes.
Bruel AL et al.
Journal of Medical Genetics, 2017
Joubert syndrome: genotyping a Northern European patient cohort.
Kroes HY et al.
European Journal of Human Genetics : Ejhg, 2016
C5orf42 is the major gene responsible for OFD syndrome type VI.
Lopez E et al.
Human Genetics, 2014
Select a paper to view details