Dysmorphic features
|
|
0.700 |
CausalMutation
|
CLINVAR |
Molecular and immunological characterization of DNA ligase IV deficiency.
|
26762768 |
2016 |
LIG4 Syndrome
|
|
0.700 |
CausalMutation
|
CLINVAR |
Ligase-4 Deficiency Causes Distinctive Immune Abnormalities in Asymptomatic Individuals.
|
27063650 |
2016 |
LIG4 Syndrome
|
|
0.700 |
CausalMutation
|
CLINVAR |
Marked overlap of four genetic syndromes with dyskeratosis congenita confounds clinical diagnosis.
|
27612988 |
2016 |
LIG4 Syndrome
|
|
0.700 |
CausalMutation
|
CLINVAR |
Genomic analysis of bone marrow failure and myelodysplastic syndromes reveals phenotypic and diagnostic complexity.
|
25239263 |
2015 |
Dysmorphic features
|
|
0.700 |
CausalMutation
|
CLINVAR |
Evaluation of Severe Combined Immunodeficiency and Combined Immunodeficiency Pediatric Patients on the Basis of Cellular Radiosensitivity.
|
26151233 |
2015 |
Dysmorphic features
|
|
0.700 |
CausalMutation
|
CLINVAR |
Novel compound heterozygous DNA ligase IV mutations in an adolescent with a slowly-progressing radiosensitive-severe combined immunodeficiency.
|
26172957 |
2015 |
LIG4 Syndrome
|
|
0.700 |
CausalMutation
|
CLINVAR |
Dubowitz syndrome is a complex comprised of multiple, genetically distinct and phenotypically overlapping disorders.
|
24892279 |
2014 |
Dwarfism
|
|
0.700 |
CausalMutation
|
CLINVAR |
Extreme growth failure is a common presentation of ligase IV deficiency.
|
24123394 |
2014 |
PITUITARY DWARFISM I
|
|
0.700 |
CausalMutation
|
CLINVAR |
Extreme growth failure is a common presentation of ligase IV deficiency.
|
24123394 |
2014 |
Lymphopenia
|
|
0.700 |
CausalMutation
|
CLINVAR |
Extreme growth failure is a common presentation of ligase IV deficiency.
|
24123394 |
2014 |
LIG4 Syndrome
|
|
0.700 |
CausalMutation
|
CLINVAR |
Extreme growth failure is a common presentation of ligase IV deficiency.
|
24123394 |
2014 |
Decreased antibody level in blood
|
|
0.700 |
CausalMutation
|
CLINVAR |
Extreme growth failure is a common presentation of ligase IV deficiency.
|
24123394 |
2014 |
Thrombocytopenia
|
|
0.700 |
CausalMutation
|
CLINVAR |
Extreme growth failure is a common presentation of ligase IV deficiency.
|
24123394 |
2014 |
Dysmorphic features
|
|
0.700 |
CausalMutation
|
CLINVAR |
Identification of the DNA repair defects in a case of Dubowitz syndrome.
|
23372718 |
2013 |
Dysmorphic features
|
|
0.700 |
CausalMutation
|
CLINVAR |
Epstein-Barr virus-associated B-cell lymphoma in a patient with DNA ligase IV (LIG4) syndrome.
|
17345618 |
2007 |
Dysmorphic features
|
|
0.700 |
CausalMutation
|
CLINVAR |
A new type of radiosensitive T-B-NK+ severe combined immunodeficiency caused by a LIG4 mutation.
|
16357942 |
2006 |
Dysmorphic features
|
|
0.700 |
CausalMutation
|
CLINVAR |
A patient with mutations in DNA Ligase IV: clinical features and overlap with Nijmegen breakage syndrome.
|
16088910 |
2005 |
LIG4 Syndrome
|
|
0.700 |
CausalMutation
|
CLINVAR |
A patient with mutations in DNA Ligase IV: clinical features and overlap with Nijmegen breakage syndrome.
|
16088910 |
2005 |
LIG4 Syndrome
|
|
0.700 |
CausalMutation
|
CLINVAR |
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.
|
15333585 |
2004 |
Dysmorphic features
|
|
0.700 |
CausalMutation
|
CLINVAR |
Analysis of DNA ligase IV mutations found in LIG4 syndrome patients: the impact of two linked polymorphisms.
|
15333585 |
2004 |
PITUITARY DWARFISM I
|
|
0.700 |
CausalMutation
|
CLINVAR |
DNA ligase IV mutations identified in patients exhibiting developmental delay and immunodeficiency.
|
11779494 |
2001 |
Dysmorphic features
|
|
0.700 |
CausalMutation
|
CLINVAR |
DNA ligase IV mutations identified in patients exhibiting developmental delay and immunodeficiency.
|
11779494 |
2001 |
Lymphopenia
|
|
0.700 |
CausalMutation
|
CLINVAR |
DNA ligase IV mutations identified in patients exhibiting developmental delay and immunodeficiency.
|
11779494 |
2001 |
Dwarfism
|
|
0.700 |
CausalMutation
|
CLINVAR |
DNA ligase IV mutations identified in patients exhibiting developmental delay and immunodeficiency.
|
11779494 |
2001 |
Thrombocytopenia
|
|
0.700 |
CausalMutation
|
CLINVAR |
DNA ligase IV mutations identified in patients exhibiting developmental delay and immunodeficiency.
|
11779494 |
2001 |