Condition: IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1


rs121908939 in DNMT3B gene and IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1 PMID 10555141 1999 DNA methyltransferases Dnmt3a and Dnmt3b are essential for de novo methylation and mammalian development.

PMID 10647011 1999 Chromosome instability and immunodeficiency syndrome caused by mutations in a DNA methyltransferase gene.

PMID 27734333 2016 A Novel Mutation in a Critical Region for the Methyl Donor Binding in DNMT3B Causes Immunodeficiency, Centromeric Instability, and Facial Anomalies Syndrome (ICF).

PMID 21120685 2011 ICF syndrome in Saudi Arabia: immunological, cytogenetic and molecular analysis.

PMID 15580563 2005 DNMT3B mutations and DNA methylation defect define two types of ICF syndrome.

PMID 11102980 2000 Genetic variation in ICF syndrome: evidence for genetic heterogeneity.

PMID 10588719 1999 The DNMT3B DNA methyltransferase gene is mutated in the ICF immunodeficiency syndrome.

PMID 11919202 2002 Molecular enzymology of the catalytic domains of the Dnmt3a and Dnmt3b DNA methyltransferases.