P63 mutations are not a major cause of non-syndromic split hand/foot malformation

被引:18
作者
de Mollerat, XJ
Everman, DB
Morgan, CT
Clarkson, KB
Rogers, RC
Colby, RS
Aylsworth, AS
Graham, JM
Stevenson, RE
Schwartz, CE
机构
[1] Greenwood Genet Ctr, Ctr Mol Studies, JC Self Res Inst Human Genet, Greenwood, SC 29646 USA
[2] Clemson Univ, Dept Biochem & Genet, Clemson, SC 29631 USA
[3] Univ N Carolina, Dept Pediat, Chapel Hill, NC USA
[4] Univ Calif Los Angeles, Sch Med, Cedars Sinai Med Ctr, Dept Pediat,Med Genet Birth Defects Ctr, Los Angeles, CA USA
关键词
D O I
10.1136/jmg.40.1.55
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
引用
收藏
页码:55 / 61
页数:7
相关论文
共 36 条
[1]   X-CHROMOSOMALLY INHERITED SPLIT-HAND SPLIT-FOOT ANOMALY IN A PAKISTANI KINDRED [J].
AHMAD, M ;
ABBAS, H ;
HAQUE, S ;
FLATZ, G .
HUMAN GENETICS, 1987, 75 (02) :169-173
[2]   INCIDENCE AT BIRTH OF DIFFERENT TYPES OF LIMB REDUCTION ABNORMALITIES IN HUNGARY 1975-1977 [J].
BOD, M ;
CZEIZEL, A ;
LENZ, W .
HUMAN GENETICS, 1983, 65 (01) :27-33
[3]   DELETION OF CHROMOSOME 2Q24-Q31 CAUSES CHARACTERISTIC DIGITAL ANOMALIES - CASE-REPORT AND REVIEW [J].
BOLES, RG ;
POBER, BR ;
GIBSON, LH ;
WILLIS, CR ;
MCGRATH, J ;
ROBERTS, DJ ;
YANGFENG, TL .
AMERICAN JOURNAL OF MEDICAL GENETICS, 1995, 55 (02) :155-160
[4]   Predicting functions from protein sequences - where are the bottlenecks? [J].
Bork, P ;
Koonin, EV .
NATURE GENETICS, 1998, 18 (04) :313-318
[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]   LIMB REDUCTION DEFECTS IN EMILIA-ROMAGNA, ITALY - EPIDEMIOLOGIC AND GENETIC-STUDY IN 173,109 CONSECUTIVE BIRTHS [J].
CALZOLARI, E ;
MANSERVIGI, D ;
GARANI, GP ;
COCCHI, G ;
MAGNANI, C ;
MILAN, M .
JOURNAL OF MEDICAL GENETICS, 1990, 27 (06) :353-357
[7]   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
[8]   Monodactylous limbs and abnormal genitalia are associated with hemizygosity for the human 2q31 region that includes the HOXD cluster [J].
Del Campo, M ;
Jones, MC ;
Veraksa, AN ;
Curry, CJ ;
Jones, KL ;
Mascarello, JT ;
Ali-Kahn-Catts, Z ;
Drumheller, T ;
McGinnis, W .
AMERICAN JOURNAL OF HUMAN GENETICS, 1999, 65 (01) :104-110
[9]  
Driggers RW, 1999, AM J MED GENET, V87, P201, DOI 10.1002/(SICI)1096-8628(19991126)87:3<201::AID-AJMG1>3.0.CO
[10]  
2-H