Condition: LIG4 Syndrome


rs104894419 in LIG4 gene and LIG4 Syndrome PMID 25239263 2015 Genomic analysis of bone marrow failure and myelodysplastic syndromes reveals phenotypic and diagnostic complexity.

PMID 11779494 2001 DNA ligase IV mutations identified in patients exhibiting developmental delay and immunodeficiency.

PMID 15333585 2004 Analysis of additional mutational changes in LIG4 syndrome (R580X, R814X and G469E) have led to the identification of a nuclear localization signal in DNA ligase IV and sites impacting upon DNA ligase IV adenylation.

PMID 27612988 2016 Marked overlap of four genetic syndromes with dyskeratosis congenita confounds clinical diagnosis.

PMID 24892279 2014 Dubowitz syndrome is a complex comprised of multiple, genetically distinct and phenotypically overlapping disorders.

PMID 27063650 2016 Ligase-4 Deficiency Causes Distinctive Immune Abnormalities in Asymptomatic Individuals.

PMID 16088910 2005 A patient with mutations in DNA Ligase IV: clinical features and overlap with Nijmegen breakage syndrome.

PMID 24123394 2014 Extreme growth failure is a common presentation of ligase IV deficiency.

PMID 24027040 2013 Clinical spectrum of LIG4 deficiency is broadened with severe dysmaturity, primordial dwarfism, and neurological abnormalities.

PMID 23372718 2013 Identification of the DNA repair defects in a case of Dubowitz syndrome.

PMID 27855655 2016 Two hits in one: whole genome sequencing unveils LIG4 syndrome and urofacial syndrome in a case report of a child with complex phenotype.