Literature DB >> 28866308

Unique heterozygous presentation in an infant with DNA ligase IV syndrome.

Barbara A Brunet1, Nina Dave2.   

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Year:  2017        PMID: 28866308     DOI: 10.1016/j.anai.2017.07.017

Source DB:  PubMed          Journal:  Ann Allergy Asthma Immunol        ISSN: 1081-1206            Impact factor:   6.347


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  4 in total

1.  A Novel Missense LIG4 Mutation in a Patient With a Phenotype Mimicking Behçet's Disease.

Authors:  Ekim Z Taskiran; Hafize E Sonmez; Can Kosukcu; Ece Tavukcuoglu; Gozde Yazici; Gunes Esendagli; Ezgi D Batu; Pelin O S Kiper; Yelda Bilginer; Mehmet Alikasifoglu; Seza Ozen
Journal:  J Clin Immunol       Date:  2019-01-08       Impact factor: 8.317

2.  Case Report: Wide Spectrum of Manifestations of Ligase IV Deficiency: Report of 3 Cases.

Authors:  Ana Costa E Castro; Raquel Maia; Sara Batalha; João Parente Freixo; Catarina Martins; Conceição Neves; Ana Isabel Cordeiro; João Farela Neves
Journal:  Front Immunol       Date:  2022-05-03       Impact factor: 8.786

3.  LIG4 syndrome: clinical and molecular characterization in a Chinese cohort.

Authors:  Bijun Sun; Qiuyu Chen; Ying Wang; Danru Liu; Jia Hou; Wenjie Wang; Wenjing Ying; Xiaoying Hui; Qinhua Zhou; Jinqiao Sun; Xiaochuan Wang
Journal:  Orphanet J Rare Dis       Date:  2020-05-29       Impact factor: 4.123

4.  Allogeneic hematopoietic stem cell transplantation in two brothers with DNA ligase IV deficiency: a case report and review of the literature.

Authors:  Sarah Schober; Karin Schilbach; Michaela Doering; Karin M Cabanillas Stanchi; Ursula Holzer; Patrick Kasteleiner; Jens Schittenhelm; Juergen F Schaefer; Ingo Mueller; Peter Lang; Rupert Handgretinger
Journal:  BMC Pediatr       Date:  2019-10-11       Impact factor: 2.125

  4 in total

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