Condition: AICARDI-GOUTIERES SYNDROME 3


rs75328625 in RNASEH2C gene and AICARDI-GOUTIERES SYNDROME 3 PMID 20131292 2010 Expanding the phenotypic spectrum of lupus erythematosus in Aicardi-Goutières syndrome.

PMID 17846997 2007 Clinical and molecular phenotype of Aicardi-Goutieres syndrome.

PMID 16845400 2006 Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection.

PMID 23322642 2013 Striking intrafamilial phenotypic variability in Aicardi-Goutières syndrome associated with the recurrent Asian founder mutation in RNASEH2C.

PMID 29150899 2018 p.Arg69Trp in RNASEH2C is a founder variant in three Indian families with Aicardi-Goutières syndrome.

rs78464826 in RNASEH2C;KAT5 gene and AICARDI-GOUTIERES SYNDROME 3 PMID 20131292 2010 Expanding the phenotypic spectrum of lupus erythematosus in Aicardi-Goutières syndrome.

PMID 16845400 2006 Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection.

PMID 17846997 2007 Clinical and molecular phenotype of Aicardi-Goutieres syndrome.