Identification of a novel TGFBR2 gene mutation in a Korean patient with Loeys-Dietz aortic aneurysm syndrome;: no mutation in TGFBR2 gene in 30 patients with classic Marfan's syndrome

被引：29

作者：

Ki, CS ^{[1
]}

Jin, DK ^{[1
]}

Chang, SH ^{[1
]}

Kim, JE ^{[1
]}

Kim, JW ^{[1
]}

Park, BK ^{[1
]}

Choi, JH ^{[1
]}

Park, IS ^{[1
]}

Yoo, HW ^{[1
]}

机构：

[1] Sungkyunkwan Univ, Sch Med, Samsung Med Ctr, Dept Pediat, Seoul 135710, South Korea

来源：

CLINICAL GENETICS | 2005年 / 68卷 / 06期

关键词：

D O I：

10.1111/j.1399-0004.00535.x

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

引用

页码：561 / 563

页数：3

共 4 条

[1] A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2 [J].

Loeys, BL ;

Chen, JJ ;

Neptune, ER ;

Judge, DP ;

Podowski, M ;

Holm, T ;

Meyers, J ;

Leitch, CC ;

Katsanis, N ;

Sharifi, N ;

Xu, FL ;

Myers, LA ;

Spevak, PJ ;

Cameron, DE ;

De Backer, J ;

Hellemans, J ;

Chen, Y ;

Davis, EC ;

Webb, CL ;

Kress, W ;

Coucke, P ;

Rifkin, DB ;

De Paepe, AM ;

Dietz, HC .

NATURE GENETICS, 2005, 37 (03) :275-281

[2] HNPCC associated with germline mutation in the TGF-β type II receptor gene [J].

Lu, SL ;

Kawabata, M ;

Imamura, T ;

Akiyama, Y ;

Nomizu, T ;

Miyazono, K ;

Yuasa, Y .

NATURE GENETICS, 1998, 19 (01) :17-18

[3] Heterozygous TGFBR2 mutations in Marfan syndrome [J].

Mizuguchi, T ;

Collod-Beroud, G ;

Akiyama, T ;

Abifadel, M ;

Harada, N ;

Morisaki, T ;

Allard, D ;

Varret, M ;

Claustres, M ;

Morisaki, H ;

Ihara, M ;

Kinoshita, A ;

Yoshiura, K ;

Junien, C ;

Kajii, T ;

Jondeau, G ;

Ohta, T ;

Kishino, T ;

Furukawa, Y ;

Nakamura, Y ;

Niikawa, N ;

Boileau, C ;

Matsumoto, N .

NATURE GENETICS, 2004, 36 (08) :855-860

[4] Six novel mutations of the fibrillin-1 gene in Korean patients with Marfan syndrome [J].

Oh, MR ;

Kim, JS ;

Beck, NS ;

Lee, HJ ;

Kohsaka, T ;

Jin, DK .

PEDIATRICS INTERNATIONAL, 2000, 42 (05) :488-491

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