Unmasking of a hemizygous WFS1 gene mutation by a chromosome 4p deletion of 8.3 Mb in a patient with Wolf–Hirschhorn syndrome-Reference-Cited by-同舟云学术

Unmasking of a hemizygous WFS1 gene mutation by a chromosome 4p deletion of 8.3 Mb in a patient with Wolf–Hirschhorn syndrome

Published:2007-07-18 Issue:11 Volume:15 Page:1132-1138
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Flipsen-ten Berg Klara,van Hasselt Peter M,Eleveld Marc J,van der Wijst Suzanne E,Hol Frans A,de Vroede Monique A M,Beemer Frits A,Hochstenbach P F Ron,Poot Martin

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://www.nature.com/articles/5201899.pdf

Reference30 articles.

1. Bergemann AD, Cole F, Hirschhorn K : The etiology of Wolf–Hirschhorn syndrome. Trends Genet 2005; 21: 188–195.

2. Zollino M, Lecce R, Fischetto R et al: Mapping the Wolf–Hirschhorn syndrome phenotype outside the currently accepted WHS critical region and defining a new critical region, WHSCR-2. Am J Hum Genet 2003; 72: 590–597.

3. Van Buggenhout G, Melotte C, Dutta B et al: Mild Wolf–Hirschhorn syndrome: micro-array CGH analysis of atypical 4p16.3 deletions enables refinement of the genotype–phenotype map. J Med Genet 2004; 41: 691–698.

4. Zollino M, Lecce R, Selicorni A et al: A double cryptic chromosome imbalance is an important factor to explain phenotypic variability in Wolf–Hirschhorn syndrome. Eur J Hum Genet 2004; 12: 797–804.

5. Yan J, Keener VW, Bi W et al: Reduced penetrance of craniofacial anomalies as a function of deletion size and genetic background in a chromosome engineered partial mouse model for Smith–Magenis syndrome. Hum Mol Genet 2004; 13: 2613–2624.

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