Split hand/split foot malformation associated with sensorineural deafness, inner and middle ear malformation, hypodontia, congenital vertical talus, and deletion of eight microsatellite markers in 7q21.1-q21.3

被引：35
作者：
Haberlandt, E
Löffler, J
Hirst-Stadlmann, A
Stöckl, B
Judmaier, W
Fischer, H
Heinz-Erian, P
Müller, T
Utermann, G
Smith, RJH
Janecke, AR
机构：
[1] Univ Innsbruck, Inst Med Biol & Human Genet, A-6020 Innsbruck, Austria
[2] Univ Innsbruck Hosp, Dept Paediat, A-6020 Innsbruck, Austria
[3] Univ Innsbruck Hosp, Dept Hearing, A-6020 Innsbruck, Austria
[4] Univ Innsbruck Hosp, Dept Speech, A-6020 Innsbruck, Austria
[5] Univ Innsbruck Hosp, Dept Voice Disorders ENT, A-6020 Innsbruck, Austria
[6] Univ Innsbruck Hosp, Dept Orthopaed, A-6020 Innsbruck, Austria
[7] Univ Innsbruck Hosp, Inst MR Imaging & Spect, A-6020 Innsbruck, Austria
[8] Univ Iowa Hosp & Clin, Dept Otolaryngol, Iowa City, IA 52242 USA
来源：
JOURNAL OF MEDICAL GENETICS | 2001年 / 38卷 / 06期
关键词：
D O I：
10.1136/jmg.38.6.405
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
引用
收藏
页码：405 / 409
页数：5
相关论文
共 36 条
[1]  
Akita S, 1993, Clin Dysmorphol, V2, P62
[2]  
ANNEREN G, 1991, CLIN GENET, V40, P257
[3]  
Berndorfer A, 1970, Z Orthop Ihre Grenzgeb, V107, P344
[4]  
BIRCHJENSEN A, 1949, CONGENITAL DEFORMITI, P19
[5]   24 CASES OF THE EEC-SYNDROME - CLINICAL PRESENTATION AND MANAGEMENT [J].
BUSS, PW ;
HUGHES, HE ;
CLARKE, A .
JOURNAL OF MEDICAL GENETICS, 1995, 32 (09) :716-723
[6]   Heterozygous germline mutations in the p53 homolog p63 are the cause of EEC syndrome [J].
Celli, J ;
Duijf, P ;
Hamel, BCJ ;
Bamshad, M ;
Kramer, B ;
Smits, APT ;
Newbury-Ecob, R ;
Hennekam, RCM ;
Van Buggenhout, G ;
van Haeringen, B ;
Woods, CG ;
van Essen, AJ ;
de Waal, R ;
Vriend, G ;
Haber, DA ;
Yang, A ;
McKeon, F ;
Brunner, HG ;
van Bokhoven, H .
CELL, 1999, 99 (02) :143-153
[7]   Characterization of the split hand split foot malformation locus SHFM1 at 7q21.3-q22.1 and analysis of a candidate gene for its expression during limb development [J].
Crackower, MA ;
Scherer, SW ;
Rommens, JM ;
Hui, CC ;
Poorkaj, P ;
Soder, S ;
Cobben, JM ;
Hudgins, L ;
Evans, JP ;
Tsui, LC .
HUMAN MOLECULAR GENETICS, 1996, 5 (05) :571-579
[8]   Cloning and characterization of two cytoplasmic dynein intermediate chain genes in mouse and human [J].
Crackower, MA ;
Sinasac, DS ;
Xia, J ;
Motoyama, J ;
Prochazka, M ;
Rommens, JM ;
Scherer, SW ;
Tsui, LC .
GENOMICS, 1999, 55 (03) :257-267
[9]   A comprehensive genetic map of the human genome based on 5,264 microsatellites [J].
Dib, C ;
Faure, S ;
Fizames, C ;
Samson, D ;
Drouot, N ;
Vignal, A ;
Millasseau, P ;
Marc, S ;
Hazan, J ;
Seboun, E ;
Lathrop, M ;
Gyapay, G ;
Morissette, J ;
Weissenbach, J .
NATURE, 1996, 380 (6570) :152-154
[10]  
Fraser G. R, 1976, CAUSES PROFOUND DEAF
1234