Condition: 3-Methylglutaconic aciduria type 2
rs1060500044 in
DNASE1L1;TAZ gene and
3-Methylglutaconic aciduria type 2
PMID 12032589 2002 Novel missense mutation (R94S) in the TAZ ( G4.5) gene in a Japanese patient with Barth syndrome.
PMID 20812380 2010 Barth syndrome: an X-linked cause of fetal cardiomyopathy and stillbirth.
PMID 16548007 2006 X-linked fetal cardiomyopathy caused by a novel mutation in the TAZ gene.
PMID 23656970 2013 Natural history of Barth syndrome: a national cohort study of 22 patients.
PMID 9345098 1997 Mutation characterization and genotype-phenotype correlation in Barth syndrome.
PMID 28183324 2017 Identification of TAZ mutations in pediatric patients with cardiomyopathy by targeted next-generation sequencing in a Chinese cohort.
PMID 23409742 2013 New clinical and molecular insights on Barth syndrome.
PMID 16873891 2006 Monolysocardiolipin in cultured fibroblasts is a sensitive and specific marker for Barth Syndrome.
PMID 11238270 2001 Novel gene mutations in patients with left ventricular noncompaction or Barth syndrome.
PMID 21300850 2011 Barth syndrome mutations that cause tafazzin complex lability.
rs1085307797 in
TAZ gene and
3-Methylglutaconic aciduria type 2
PMID 24887148 2014 Cardiomyopathy in a male patient with neutropenia and growth delay.
PMID 23656970 2013 Natural history of Barth syndrome: a national cohort study of 22 patients.
PMID 9382096 1997 The X-linked gene G4.5 is responsible for different infantile dilated cardiomyopathies.
PMID 16880272 2006 Mitochondrial mislocalization and altered assembly of a cluster of Barth syndrome mutant tafazzins.
PMID 23361305 2013 Left ventricular noncompaction (LVNC) and low mitochondrial membrane potential are specific for Barth syndrome.
PMID 9382097 1997 Neonatal, lethal noncompaction of the left ventricular myocardium is allelic with Barth syndrome.
PMID 12032589 2002 Novel missense mutation (R94S) in the TAZ ( G4.5) gene in a Japanese patient with Barth syndrome.
PMID 11238270 2001 Novel gene mutations in patients with left ventricular noncompaction or Barth syndrome.
PMID 29077208 2018 Clinical efficacy of a next-generation sequencing gene panel for primary immunodeficiency diagnostics.
PMID 9345098 1997 Mutation characterization and genotype-phenotype correlation in Barth syndrome.
PMID 1719174 1991 X-linked dilated cardiomyopathy with neutropenia, growth retardation, and 3-methylglutaconic aciduria.
rs104894937 in
TAZ;DNASE1L1 gene and
3-Methylglutaconic aciduria type 2
PMID 11238270 2001 Novel gene mutations in patients with left ventricular noncompaction or Barth syndrome.
PMID 12032589 2002 Novel missense mutation (R94S) in the TAZ ( G4.5) gene in a Japanese patient with Barth syndrome.
PMID 9382096 1997 The X-linked gene G4.5 is responsible for different infantile dilated cardiomyopathies.
PMID 9382097 1997 Neonatal, lethal noncompaction of the left ventricular myocardium is allelic with Barth syndrome.
PMID 12032589 2002 Novel missense mutation (R94S) in the TAZ ( G4.5) gene in a Japanese patient with Barth syndrome.
PMID 21300850 2011 Barth syndrome mutations that cause tafazzin complex lability.