Mutation in WDR4 impairs tRNA m7G46 methylation and causes a distinct form of microcephalic primordial dwarfism-Reference-Cited by-同舟云学术

Mutation in WDR4 impairs tRNA m7G46 methylation and causes a distinct form of microcephalic primordial dwarfism

Published:2015-09-28 Issue:1 Volume:16 Page:
ISSN:1474-760X
Container-title:Genome Biology
language:en
Short-container-title:Genome Biol

Author:

Shaheen Ranad,Abdel-Salam Ghada M H,Guy Michael P.,Alomar Rana,Abdel-Hamid Mohamed S.,Afifi Hanan H.,Ismail Samira I.,Emam Bayoumi A.,Phizicky Eric M.,Alkuraya Fowzan S.

Funder

King Salman Center for Disability Research

National Institutes of Health

Publisher

Springer Science and Business Media LLC

Link

http://link.springer.com/content/pdf/10.1186/s13059-015-0779-x.pdf

Reference64 articles.

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3. O’Driscoll M, Ruiz-Perez VL, Woods CG, Jeggo PA, Goodship JA. A splicing mutation affecting expression of ataxia–telangiectasia and Rad3–related protein (ATR) results in Seckel syndrome. Nat Genet. 2003;33:497–501.

4. Shaheen R, Faqeih E, Ansari S, Abdel-Salam G, Al-Hassnan ZN, Al-Shidi T, et al. Genomic analysis of primordial dwarfism reveals novel disease genes. Genome Res. 2014;24:291–9.

5. Ogi T, Walker S, Stiff T, Hobson E, Limsirichaikul S, Carpenter G, et al. Identification of the first ATRIP–deficient patient and novel mutations in ATR define a clinical spectrum for ATR–ATRIP Seckel syndrome. PLoS Genet. 2012;8:e1002945.

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