Condition: JOUBERT SYNDROME 20


rs200799769 in TMEM231 gene and JOUBERT SYNDROME 20 PMID 27449316 2016 TMEM231 Gene Conversion Associated with Joubert and Meckel-Gruber Syndromes in the Same Family.

PMID 23012439 2012 Mutations in TMEM231 cause Joubert syndrome in French Canadians.

PMID 26477546 2015 Joubert Syndrome in French Canadians and Identification of Mutations in CEP104.

PMID 25869670 2015 TMEM231, mutated in orofaciodigital and Meckel syndromes, organizes the ciliary transition zone.