Heterozygous TGFBR2 mutations in Marfan syndrome

Marfan syndrome (MFS) is an extracellular matrix disorder with cardinal manifestations in the eye, skeleton, and cardiovascular systems and associated with defects in the fibrillin gene (FBN1) at 15q21.1 1. We previously mapped the second locus for MFS (MFS type 2, MFS2, OMIM *154705), at 3p24.2-p25...

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Autori principali: 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
Natura: Artigo
Lingua:Inglês
Pubblicazione: Nature Pub. Co. 2004
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Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC2230615/
https://ncbi.nlm.nih.gov/pubmed/15235604
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ng1392
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