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.