Condition: JOUBERT SYNDROME 14
rs199469707 in
TMEM237 gene and
JOUBERT SYNDROME 14
PMID 22152675 2011 TMEM237 is mutated in individuals with a Joubert syndrome related disorder and expands the role of the TMEM family at the ciliary transition zone.
PMID 26092869 2015 Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity.