Identification of the DNA repair defects in a case of Dubowitz syndrome
about
Dubowitz syndrome is a complex comprised of multiple, genetically distinct and phenotypically overlapping disordersDNA ligase IV syndrome; a reviewTwo hits in one: whole genome sequencing unveils LIG4 syndrome and urofacial syndrome in a case report of a child with complex phenotype.Extreme growth failure is a common presentation of ligase IV deficiency.Yeast DNA ligase IV mutations reveal a nonhomologous end joining function of BRCT1 distinct from XRCC4/Lif1 binding.Ligase-4 Deficiency Causes Distinctive Immune Abnormalities in Asymptomatic Individuals.The Role of the Core Non-Homologous End Joining Factors in Carcinogenesis and Cancer.The DNA Ligase IV Syndrome R278H Mutation Impairs B Lymphopoiesis via Error-Prone Nonhomologous End-Joining.Clinical spectrum of LIG4 deficiency is broadened with severe dysmaturity, primordial dwarfism, and neurological abnormalities.Deletion of 19q13 reveals clinical overlap with Dubowitz syndrome.Dubowitz syndrome: common findings and peculiar urine odor.DNA ligase IV deficiency: Immunoglobulin class deficiency depends on the genotype.
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P2860
Identification of the DNA repair defects in a case of Dubowitz syndrome
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2013 nî lūn-bûn
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2013 թուականին հրատարակուած գիտական յօդուած
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2013 թվականին հրատարակված գիտական հոդված
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2013年の論文
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2013年論文
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2013年論文
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2013年論文
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2013年論文
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2013年論文
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2013年论文
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Identification of the DNA repair defects in a case of Dubowitz syndrome
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Identification of the DNA repair defects in a case of Dubowitz syndrome
@en
Identification of the DNA repair defects in a case of Dubowitz syndrome
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type
label
Identification of the DNA repair defects in a case of Dubowitz syndrome
@ast
Identification of the DNA repair defects in a case of Dubowitz syndrome
@en
Identification of the DNA repair defects in a case of Dubowitz syndrome
@nl
prefLabel
Identification of the DNA repair defects in a case of Dubowitz syndrome
@ast
Identification of the DNA repair defects in a case of Dubowitz syndrome
@en
Identification of the DNA repair defects in a case of Dubowitz syndrome
@nl
P2093
P2860
P3181
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P1476
Identification of the DNA repair defects in a case of Dubowitz syndrome
@en
P2093
Bruce G Haffty
Jingmei Liu
Jingyin Yue
Mark N Stein
Shijie Lan
Zhiyuan Shen
P2860
P304
P3181
P356
10.1371/JOURNAL.PONE.0054389
P407
P577
2013-01-01T00:00:00Z