Heterozygous TGFBR2 mutations in Marfan syndrome

Author:

Mizuguchi Takeshi,Collod-Beroud Gwenaëlle,Akiyama Takushi,Abifadel Marianne,Harada Naoki,Morisaki Takayuki,Allard Delphine,Varret Mathilde,Claustres Mireille,Morisaki Hiroko,Ihara Makoto,Kinoshita Akira,Yoshiura Koh-ichiro,Junien Claudine,Kajii Tadashi,Jondeau Guillaume,Ohta Tohru,Kishino Tatsuya,Furukawa Yoichi,Nakamura Yusuke,Niikawa Norio,Boileau Catherine,Matsumoto Naomichi

Publisher

Springer Science and Business Media LLC

Subject

Genetics

Reference22 articles.

1. Collod-Béroud, G. & Boileau, C. Marfan syndrome in the third Millennium. Eur. J. Hum. Genet. 10, 673–681 (2002).

2. Collod, G. et al. A second locus for Marfan syndrome maps to chromosome 3p24.2-p25. Nat. Genet. 8, 264–268 (1994).

3. Boileau, C. et al. Autosomal dominant Marfan-like connective-tissue disorder with aortic dilation and skeletal anomalies not linked to the fibrillin genes. Am. J. Hum. Genet. 53, 46–54 (1993).

4. Hasham, S. et al. Mapping a locus for familial thoracic aortic aneurysms and dissections (TAAD2) to 3p24-25. Circulation 107, 3184–3190 (2003).

5. Grady, W. et al. Mutational inactivation of transforming growth factor β receptor type II in microsatellite stable colon cancers. Cancer Res. 59, 320–324 (1999).

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