Molecular pathology of Shprintzen-Goldberg syndrome

被引：51

作者：

Kosaki, K

Takahashi, D

Udaka, T

Kosaki, R

Matsumoto, M

Ibe, S

Isobe, T

Tanaka, Y

Takahashi, T

机构：

[1] Keio Univ, Sch Med, Dept Pediat, Div Med Genet,Shinjuku Ku, Tokyo 1608582, Japan

[2] Keio Univ, Sch Med, Dept Orthoped Surg, Tokyo 1608582, Japan

[3] Childrens Natl Med Ctr, Dept Clin Genet & Mol Med, Tokyo, Japan

[4] Ibaraki Prefectural Rehabil Ctr, Dept Orthoped Surg, Ibaraki, Japan

[5] Ibaraki Childrens Hosp, Dept Pediat, Ibaraki, Japan

[6] Ichikawa Gen Hosp, Tokyo Dent Coll, Dept Pediat, Chiba, Japan

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS PART A | 2006年 / 140A卷 / 01期

关键词：

D O I：

10.1002/ajmg.a.31006

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

引用

页码：104 / 108

页数：5

共 9 条

[1]

Brenn T, 1996, LAB INVEST, V75, P389

[2] 4 NOVEL FBN1 MUTATIONS - SIGNIFICANCE FOR MUTANT TRANSCRIPT LEVEL AND EGF-LIKE DOMAIN CALCIUM-BINDING IN THE PATHOGENESIS OF MARFAN-SYNDROME [J].

DIETZ, HC ;

MCINTOSH, I ;

SAKAI, LY ;

CORSON, GM ;

CHALBERG, SC ;

PYERITZ, RE ;

FRANCOMANO, CA .

GENOMICS, 1993, 17 (02) :468-475

[3]

Greally MT, 1998, AM J MED GENET, V76, P202, DOI 10.1002/(SICI)1096-8628(19980319)76:3<202::AID-AJMG2>3.0.CO

[4]

2-S

[5] 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

[6] Shprintzen-Goldberg syndrome:: Fourteen new patients and a clinical analysis [J].

Robinson, PN ;

Neumann, LM ;

Demuth, S ;

Enders, H ;

Jung, U ;

König, R ;

Mitulla, B ;

Müller, D ;

Muschke, P ;

Pfeiffer, L ;

Prager, B ;

Somer, M ;

Tinschert, S .

AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2005, 135A (03) :251-262

[7] Cysteine substitutions in epidermal growth factor-like domains of fibrillin-1: Distinct effects on biochemical and clinical phenotypes [J].

Schrijver, I ;

Liu, W ;

Brenn, T ;

Furthmayr, H ;

Francke, U .

AMERICAN JOURNAL OF HUMAN GENETICS, 1999, 65 (04) :1007-1020

[8]

SHPRINTZEN RJ, 1982, J CRAN GENET DEV BIO, V2, P65

[9] Mutation in fibrillin-1 and the Marfanoid-craniosynostosis (Shprintzen-Goldberg) syndrome [J].

Sood, S ;

Eldadah, ZA ;

Krause, WL ;

McIntosh, I ;

Dietz, HC .

NATURE GENETICS, 1996, 12 (02) :209-211

← 1 →