Joubert syndrome 14
Joubert syndrome type 14 is an autosomal recessive disorder caused by mutations in the TMEM237 gene.
Chong JX et al. (2012) A population-based study of autosomal-recessive disease-causing mutations in a founder population.[^]
Janecke AR et al. (2004) Joubert-like syndrome unlinked to known candidate loci.[^]
Boycott KM et al. (2007) Meckel syndrome in the Hutterite population is actually a Joubert-related cerebello-oculo-renal syndrome.[^]
Huang L et al. (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.[^]
Schurig V et al. (1980) The Meckel syndrome in the Hutterites.[^]
OMIM.ORG articleOmim 614424 [^]