Meier-Gorlin syndrome-Reference-Cited by-同舟云学术

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Meier-Gorlin syndrome

Published:2015-09-17 Issue:1 Volume:10 Page:
ISSN:1750-1172
Container-title:Orphanet Journal of Rare Diseases
language:en
Short-container-title:Orphanet J Rare Dis

Author:

de Munnik Sonja A.,Hoefsloot Elisabeth H.,Roukema Jolt,Schoots Jeroen,Knoers Nine VAM,Brunner Han G.,Jackson Andrew P.,Bongers Ernie MHF

Publisher

Springer Science and Business Media LLC

Subject

Pharmacology (medical),Genetics(clinical),General Medicine

Link

http://link.springer.com/content/pdf/10.1186/s13023-015-0322-x

Reference29 articles.

1. Guernsey DL, Matsuoka M, Jiang H, Evans S, Macgillivray C, Nightingale M, et al. Mutations in origin recognition complex gene ORC4 cause Meier-Gorlin syndrome. Nat Genet. 2011;43:360–4.

2. Bicknell LS, Bongers EM, Leitch A, Brown S, Schoots J, Harley ME, et al. Mutations in the pre-replication complex cause Meier-Gorlin syndrome. Nat Genet. 2011;43:356–9.

3. Bicknell LS, Walker S, Klingseisen A, Stiff T, Leitch A, Kerzendorfer C, et al. Mutations in ORC1, encoding the largest subunit of the origin recognition complex, cause microcephalic primordial dwarfism resembling Meier-Gorlin syndrome. Nat Genet. 2011;43:350–5.

4. de Munnik SA, Bicknell LS, Aftimos S, Al-Aama JY, Van BY, Bober MB, et al. Meier-Gorlin syndrome genotype-phenotype studies: 35 individuals with pre-replication complex gene mutations and 10 without molecular diagnosis. Eur J Hum Genet. 2012.

5. Shalev SA, Khayat M, Etty DS, Elpeleg O. Further insight into the phenotype associated with a mutation in the ORC6 gene, causing Meier-Gorlin syndrome 3. Am J Med Genet A. 2015;167A:607–11.

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