A de novo non-sense mutation in ZBTB18 in a patient with features of the 1q43q44 microdeletion syndrome-Reference-Cited by-同舟云学术

A de novo non-sense mutation in ZBTB18 in a patient with features of the 1q43q44 microdeletion syndrome

Published:2013-11-06 Issue:6 Volume:22 Page:844-846
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

de Munnik Sonja A,García-Miñaúr Sixto,Hoischen Alexander,van Bon Bregje W,Boycott Kym M,Schoots Jeroen,Hoefsloot Lies H,Knoers Nine VAM,Bongers Ernie MHF,Brunner Han G

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://www.nature.com/articles/ejhg2013249.pdf

Reference20 articles.

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2. De Vries BB, Knight SJ, Homfray T, Smithson SF, Flint J, Winter RM : Submicroscopic subtelomeric 1qter deletions: a recognisable phenotype? J Med Genet 2001; 38: 175–178.

3. Hill AD, Chang BS, Hill RS et al: A 2-Mb critical region implicated in the microcephaly associated with terminal 1q deletion syndrome. Am J Med Genet A 2007; 143A: 1692–1698.

4. Merritt JL 2nd, Zou Y, Jalal SM, Michels VV : Delineation of the cryptic 1qter deletion phenotype. Am J Med Genet A 2007; 143: 599–603.

5. Roberts AE, Cox GF, Kimonis V, Lamb A, Irons M : Clinical presentation of 13 patients with subtelomeric rearrangements and a review of the literature. Am J Med Genet A 2004; 128A: 352–363.

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