Condition: JOUBERT SYNDROME 3


rs121434350 in AHI1 gene and JOUBERT SYNDROME 3 PMID 15322546 2004 Abnormal cerebellar development and axonal decussation due to mutations in AHI1 in Joubert syndrome.

PMID 21623382 2011 Defective Wnt-dependent cerebellar midline fusion in a mouse model of Joubert syndrome.

PMID 23532844 2013 The Joubert syndrome-associated missense mutation (V443D) in the Abelson-helper integration site 1 (AHI1) protein alters its localization and protein-protein interactions.

PMID 15467982 2004 Mutations in the AHI1 gene, encoding jouberin, cause Joubert syndrome with cortical polymicrogyria.

PMID 16155189 2006 AHI1 mutations cause both retinal dystrophy and renal cystic disease in Joubert syndrome.

PMID 16453322 2006 AHI1 gene mutations cause specific forms of Joubert syndrome-related disorders.

PMID 26092869 2015 Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity.

PMID 25445212 2015 Diagnostic application of an extensive gene panel for Leber congenital amaurosis with severe genetic heterogeneity.

PMID 28442542 2017 Missense mutations in the WD40 domain of AHI1 cause non-syndromic retinitis pigmentosa.

PMID 28431631 2017 Neuroimaging findings in Joubert syndrome with C5orf42 gene mutations: A milder form of molar tooth sign and vermian hypoplasia.