Ligase IV syndrome can present with microcephaly and radial ray anomalies similar to Fanconi anaemia plus fatal kidney malformations-Reference-Cited by-同舟云学术

Ligase IV syndrome can present with microcephaly and radial ray anomalies similar to Fanconi anaemia plus fatal kidney malformations

Published:2020-09 Issue:9 Volume:63 Page:103974
ISSN:1769-7212
Container-title:European Journal of Medical Genetics
language:en
Short-container-title:European Journal of Medical Genetics

Author:

Madhu Rajesh,Beaman Glenda M.,Chandler Kate E.,O'Sullivan James,Urquhart Jill E.,Khan Naz,Martindale Elizabeth,Briggs Tracy A.,Clayton-Smith Jill,Higgs Jenny,Batra Gauri,Kerr Bronwyn,Woolf Adrian S.,Newman William G.

Funder

Kidney Research UK

Medical Research Council

Newlife Foundation

NIHR BRC

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics,General Medicine

Reference25 articles.

1. DNA ligase IV syndrome; a review;Altmann;Orphanet J. Rare Dis.,2016

2. Quantitative standards for fetal and neonatal autopsy;Archie;Am. J. Clin. Pathol.,2006

3. Targeted disruption of the gene encoding DNA ligase IV leads to lethality in embryonic mice;Barnes;Curr. Biol.,1998

4. Severe combined immunodeficiency and microcephaly in siblings with hypomorphic mutations in DNA ligase IV;Buck;Eur. J. Immunol.,2006

5. Interactive visual analysis of SNP data for rapid autozygosity mapping in consanguineous families;Carr;Hum. Mutat.,2006

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3. DNA ligase IV dificiency with elevated serum IgG levels suspected to have myelodysplastic syndrome: a case report;BMC Pediatrics;2022-10-11

4. Case Report: Wide Spectrum of Manifestations of Ligase IV Deficiency: Report of 3 Cases;Frontiers in Immunology;2022-05-03

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