Condition: MECKEL SYNDROME, TYPE 11


rs200799769 in TMEM231 gene and MECKEL SYNDROME, TYPE 11 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 23349226 2013 Mutations in TMEM231 cause Meckel-Gruber syndrome.

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