Condition: JOUBERT SYNDROME 10 (disorder)
rs312262830
in
OFD1
gene and
JOUBERT SYNDROME 10 (disorder)
PMID 24884629
2014 CNS involvement in OFD1 syndrome: a clinical, molecular, and neuroimaging study.
PMID 18546297
2008 Mutational spectrum of the oral-facial-digital type I syndrome: a study on a large collection of patients.
PMID 26092869
2015 Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity.
rs863225213
in
OFD1;TRAPPC2
gene and
JOUBERT SYNDROME 10 (disorder)
PMID 26092869
2015 Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity.