A splicing mutation of the HMGA2 gene is associated with Silver–Russell syndrome phenotype-Reference-Cited by-同舟云学术

A splicing mutation of the HMGA2 gene is associated with Silver–Russell syndrome phenotype

Published:2015-03-26 Issue:6 Volume:60 Page:287-293
ISSN:1434-5161
Container-title:Journal of Human Genetics
language:en
Short-container-title:J Hum Genet

Author:

De Crescenzo Agostina,Citro Valentina,Freschi Andrea,Sparago Angela,Palumbo Orazio^ORCID,Cubellis Maria Vittoria,Carella Massimo,Castelluccio Pia,Cavaliere Maria Luigia,Cerrato Flavia,Riccio Andrea

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://www.nature.com/articles/jhg201529.pdf

Reference19 articles.

1. Eggermann, T., Gonzalez, D., Spengler, S., Arslan-Kirchner, M., Binder, G. & Schönherr, N. Broad clinical spectrum in Silver-Russell syndrome and consequences for genetic testing in growth retardation. Pediatrics 123, e929–e931 (2009).

2. Abu-Amero, S., Monk, D., Frost, J., Preece, M., Stanier, P. & Moore, G. E. The genetic aetiology of Silver-Russell syndrome. J. Med. Genet. 45, 193–199 (2008).

3. Menten, B., Buysse, K., Zahir, F., Hellemans, J., Hamilton, S. J., Costa, T. et al. Osteopoikilosis, short stature and mental retardation as key features of a new microdeletion syndrome on 12q14. J. Med. Genet. 44, 264–268 (2007).

4. Buysse, K., Reardon, W., Mehta, L., Costa, T., Fagerstrom, C., Kingsbury, D. J. et al. The 12q14 microdeletion syndrome: additional patients and further evidence that HMGA2 is an important genetic determinant for human height. Eur. J. Med. Genet. 52, 101–107 (2009).

5. Spengler, S., Schönherr, N., Binder, G., Wollmann, H. A., Fricke-Otto, S., Mühlenberg, R. et al. Submicroscopic chromosomal imbalances in idiopathic Silver-Russell syndrome (SRS): the SRS phenotype overlaps with the 12q14 microdeletion syndrome. J.Med.Genet. 47, 356–360 (2010).

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