A patient with polymerase E1 deficiency (POLE1): clinical features and overlap with DNA breakage/instability syndromes-Reference-Cited by-同舟云学术

A patient with polymerase E1 deficiency (POLE1): clinical features and overlap with DNA breakage/instability syndromes

Published:2015-05-07 Issue:1 Volume:16 Page:
ISSN:1471-2350
Container-title:BMC Medical Genetics
language:en
Short-container-title:BMC Med Genet

Author:

Thiffault Isabelle,Saunders Carol,Jenkins Janda,Raje Nikita,Canty Kristi,Sharma Mukta,Grote Lauren,Welsh Holly I,Farrow Emily,Twist Greyson,Miller Neil,Zwick David,Zellmer Lee,Kingsmore Stephen F,Safina Nicole P

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://link.springer.com/article/10.1186/s12881-015-0177-y/fulltext.html

Reference32 articles.

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2. O’Driscoll M, Cerosaletti KM, Girard PM, Dai Y, Stumm M, Kysela B, et al. DNA ligase IV mutations identified in patients exhibiting developmental delay and immunodeficiency. Mol Cell. 2001;8(6):1175–85.

3. 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(11), e1002945.

4. 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(4):497–501.

5. Dubowitz V. Familial low birthweight dwarfism with an unusual facies and a skin eruption. J Med Genet. 1965;2(1):12–7.

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