Two hits in one: whole genome sequencing unveils LIG4 syndrome and urofacial syndrome in a case report of a child with complex phenotype-Reference-Cited by-同舟云学术

Two hits in one: whole genome sequencing unveils LIG4 syndrome and urofacial syndrome in a case report of a child with complex phenotype

Published:2016-11-17 Issue:1 Volume:17 Page:
ISSN:1471-2350
Container-title:BMC Medical Genetics
language:en
Short-container-title:BMC Med Genet

Author:

Fadda Abeer,Butt Fiza,Tomei Sara,Deola Sara,Lo Bernice,Robay Amal,Al-Shakaki Alya,Al-Hajri Noor,Crystal Ronald,Kambouris Marios,Wang Ena,Marincola Francesco M.,Fakhro Khalid A.,Cugno Chiara

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Link

http://link.springer.com/content/pdf/10.1186/s12881-016-0346-7.pdf

Reference21 articles.

1. Wei YF, et al. Molecular cloning and expression of human cDNAs encoding a novel DNA ligase IV and DNA ligase III, an enzyme active in DNA repair and recombination. Mol Cell Biol. 1995;15(6):3206–16.

2. Frank KM, et al. Late embryonic lethality and impaired V(D)J recombination in mice lacking DNA ligase IV. Nature. 1998;396(6707):173–7.

3. Frank KM, et al. DNA ligase IV deficiency in mice leads to defective neurogenesis and embryonic lethality via the p53 pathway. Mol Cell. 2000;5(6):993–1002.

4. Helleday T, et al. DNA double-strand break repair: from mechanistic understanding to cancer treatment. DNA Repair (Amst). 2007;6(7):923–35.

5. Riballo E, et al. Identification of a defect in DNA ligase IV in a radiosensitive leukaemia patient. Curr Biol. 1999;9(13):699–702.

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