Condition: Joubert syndrome 1
rs121918128 in
INPP5E gene and
Joubert syndrome 1
PMID 23386033 2013 Phenotypic spectrum and prevalence of INPP5E mutations in Joubert syndrome and related disorders.
PMID 19668216 2009 Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies.
PMID 29052317 2017 Defective ciliogenesis in INPP5E-related Joubert syndrome.
PMID 23034536 2013 The diagnostic utility of exome sequencing in Joubert syndrome and related disorders.
PMID 26092869 2015 Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity.
PMID 21448235 2011 Clinical utility gene card for: Joubert syndrome.