Extreme growth failure is a common presentation of ligase IV deficiency.
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Mutations in CENPE define a novel kinetochore-centromeric mechanism for microcephalic primordial dwarfismDNA ligase IV syndrome; a reviewMutations in the NHEJ component XRCC4 cause primordial dwarfismMutations in XRCC4 cause primary microcephaly, short stature and increased genomic instabilityMicrocephalic Osteodysplastic Primordial Dwarfism, Type II: a Clinical ReviewTwo hits in one: whole genome sequencing unveils LIG4 syndrome and urofacial syndrome in a case report of a child with complex phenotype.An XRCC4 splice mutation associated with severe short stature, gonadal failure, and early-onset metabolic syndrome.A nonsense mutation in the DNA repair factor Hebo causes mild bone marrow failure and microcephaly.Low levels of endogenous or X-ray-induced DNA double-strand breaks activate apoptosis in adult neural stem cells.TRAIP promotes DNA damage response during genome replication and is mutated in primordial dwarfism.Ligase-4 Deficiency Causes Distinctive Immune Abnormalities in Asymptomatic Individuals.Marked overlap of four genetic syndromes with dyskeratosis congenita confounds clinical diagnosisThe Role of the Core Non-Homologous End Joining Factors in Carcinogenesis and Cancer.In vivo sensitivity of the embryonic and adult neural stem cell compartments to low-dose radiation.Mutations in XRCC4 cause primordial dwarfism without causing immunodeficiency.XLF deficiency results in reduced N-nucleotide addition during V(D)J recombination.The DNA Ligase IV Syndrome R278H Mutation Impairs B Lymphopoiesis via Error-Prone Nonhomologous End-Joining.Mutations in DONSON disrupt replication fork stability and cause microcephalic dwarfismWhen natural mutants do not fit our expectations: the intriguing case of patients with XRCC4 mutations revealed by whole-exome sequencing.DNA ligase IV deficiency: Immunoglobulin class deficiency depends on the genotype.Cell-type specific role of the RNA-binding protein, NONO, in the DNA double-strand break response in the mouse testes.Late-onset combined immune deficiency due to LIGIV mutations in a 12-year-old patient.Bax/Bcl-2 expression ratio in prediction of response to breast cancer radiotherapy.Mutations in TOP3A Cause a Bloom Syndrome-like Disorder
P2860
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P2860
Extreme growth failure is a common presentation of ligase IV deficiency.
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2013 nî lūn-bûn
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2013 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած
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2013 թվականի նոյեմբերին 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
@zh-tw
2013年论文
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Extreme growth failure is a common presentation of ligase IV deficiency.
@ast
Extreme growth failure is a common presentation of ligase IV deficiency.
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type
label
Extreme growth failure is a common presentation of ligase IV deficiency.
@ast
Extreme growth failure is a common presentation of ligase IV deficiency.
@en
prefLabel
Extreme growth failure is a common presentation of ligase IV deficiency.
@ast
Extreme growth failure is a common presentation of ligase IV deficiency.
@en
P2093
P2860
P50
P356
P1433
P1476
Extreme growth failure is a common presentation of ligase IV deficiency.
@en
P2093
Adilia Warris
Andrew P Jackson
Angela L Duker
Bernd Wollnik
C Geoffrey Woods
Dagmar Wieczorek
Diana Johnson
Fiona Shackley
Helen Firth
P2860
P356
10.1002/HUMU.22461
P577
2013-11-08T00:00:00Z