A new sporadic case of early-onset Loeys-Dietz syndrome due to the recurrent mutation p.R528C in theTGFBR2 gene substantiates interindividual clinical variability-Reference-Cited by-同舟云学术

A new sporadic case of early-onset Loeys-Dietz syndrome due to the recurrent mutation p.R528C in theTGFBR2 gene substantiates interindividual clinical variability

Published:2009-12 Issue:4 Volume:50 Page:405-410
ISSN:1234-1983
Container-title:Journal of Applied Genetics
language:en
Short-container-title:J Appl Genet

Author:

Jamsheer A.,Henggeler C.,Wierzba J.,Loeys B.,De Paepe A.,Stheneur Ch.,Badziąg N.,Matuszewska K.,Matyas G.,Latos-Bieleńska A.

Publisher

Springer Science and Business Media LLC

Subject

Genetics,General Medicine

Link

http://link.springer.com/content/pdf/10.1007/BF03195701.pdf

Reference16 articles.

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2. Ades LC, Sullivan K, Biggin A, Haan EA, Brett M, Holman KJ, et al. 2006.FBN1, TGFBR1, and the Marfan-craniosynostosis/mental retardation disorders revisited. Am J Med Genet A140: 1047–1058.

3. Akutsu K, Morisaki H, Takeshita S, Sakamoto S, Tamori Y, Yoshimuta T, et al. 2007. Phenotypic heterogeneity of Marfan-like connective tissue disorders associated with mutations in the transforming growth factor-beta receptor genes. Circ J 71: 1305–1309.

4. Disabella E, Grasso M, Marziliano N, Ansaldi S, Lucchelli C, Porcu E, et al. 2006. Two novel and one known mutation of theTGFBR2 gene in Marfan syndrome not associated withFBN1 gene defects. Eur J Hum Genet 14: 34–38.

5. Frederic MY, Hamroun D, Faivre L, Boileau C, Jondeau G, Claustres M, et al. 2008. A new locus-specific database (LSDB) for mutations in theTGFBR2 gene: UMD-TGFBR2. Hum Mutat 29: 33–38.

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