Article
Heterozygous TGFBR2 mutations in Marfan syndrome.
Nature genetics - 1 Aug 2004
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
Abstract excerpt
Marfan syndrome is an extracellular matrix disorder with cardinal manifestations in the eye, skeleton and cardiovascular systems associated with defects in the gene encoding fibrillin (FBN1) at 15q21.1 (ref. 1). A second type of the disorder (Marfan syndrome type 2; OMIM 154705) is associated with a second locus, MFS2, at 3p25-p24.2 in a large French family (family MS1). Identification of a 3p24.1 chromosomal...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.