FGFR2 MUTATIONS IN PFEIFFER SYNDROME

被引：155

作者：

LAJEUNIE, E ^{[1
]}

MA, HW ^{[1
]}

BONAVENTURE, J ^{[1
]}

MUNNICH, A ^{[1
]}

LEMERRER, M ^{[1
]}

RENIER, D ^{[1
]}

机构：

[1] HOP NECKER ENFANTS MALAD,DEPT NEUROCHIRURG,F-75743 PARIS 15,FRANCE

来源：

NATURE GENETICS | 1995年 / 9卷 / 02期

关键词：

D O I：

10.1038/ng0295-108

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

[No abstract available]

引用

页码：108 / 108

页数：1

共 9 条

[1] PFEIFFER SYNDROME UPDATE, CLINICAL SUBTYPES, AND GUIDELINES FOR DIFFERENTIAL-DIAGNOSIS [J].

COHEN, MM .

AMERICAN JOURNAL OF MEDICAL GENETICS, 1993, 45 (03) :300-307

[2] JACKSON-WEISS-SYNDROME AND CROUZON-SYNDROME ARE ALLELIC WITH MUTATIONS IN FIBROBLAST GROWTH-FACTOR RECEPTOR-2 [J].

JABS, EW ;

LI, X ;

SCOTT, AF ;

MEYERS, G ;

CHEN, W ;

ECCLES, M ;

MAO, JI ;

CHARNAS, LR ;

JACKSON, CE ;

JAYE, M .

NATURE GENETICS, 1994, 8 (03) :275-279

[3] A COMMON MUTATION IN THE FIBROBLAST GROWTH-FACTOR RECEPTOR-1 GENE IN PFEIFFER-SYNDROME [J].

MUENKE, M ;

SCHELL, U ;

HEHR, A ;

ROBIN, NH ;

LOSKEN, HW ;

SCHINZEL, A ;

PULLEYN, LJ ;

RUTLAND, P ;

REARDON, W ;

MALCOLM, S ;

WINTER, RM .

NATURE GENETICS, 1994, 8 (03) :269-274

[4]

PFEIFFER R A, 1964, Z Kinderheilkd, V90, P301, DOI 10.1007/BF00447500

[5] MUTATIONS IN THE FIBROBLAST GROWTH-FACTOR RECEPTOR-2 GENE CAUSE CROUZON-SYNDROME [J].

REARDON, W ;

WINTER, RM ;

RUTLAND, P ;

PULLEYN, LJ ;

JONES, BM ;

MALCOLM, S .

NATURE GENETICS, 1994, 8 (01) :98-103

[6]

ROBIN NH, 1994, AM J HUM GENET, V55, pA1171

[7] MUTATIONS IN THE GENE ENCODING FIBROBLAST GROWTH-FACTOR RECEPTOR-3 IN ACHONDROPLASIA [J].

ROUSSEAU, F ;

BONAVENTURE, J ;

LEGEAIMALLET, L ;

PELET, A ;

ROZET, JM ;

MAROTEAUX, P ;

LEMERRER, M ;

MUNNICH, A .

NATURE, 1994, 371 (6494) :252-254

[8] MUTATIONS IN THE TRANSMEMBRANE DOMAIN OF FGFR3 CAUSE THE MOST COMMON GENETIC FORM OF DWARFISM, ACHONDROPLASIA [J].

SHIANG, R ;

THOMPSON, LM ;

ZHU, YZ ;

CHURCH, DM ;

FIELDER, TJ ;

BOCIAN, M ;

WINOKUR, ST ;

WASMUTH, JJ .

CELL, 1994, 78 (02) :335-342

[9] APERT SYNDROME RESULTS FROM LOCALIZED MUTATIONS OF FGFR2 AND IS ALLELIC WITH CROUZON SYNDROME [J].

WILKIE, AOM ;

SLANEY, SF ;

OLDRIDGE, M ;

POOLE, MD ;

ASHWORTH, GJ ;

HOCKLEY, AD ;

HAYWARD, RD ;

DAVID, DJ ;

PULLEYN, LJ ;

RUTLAND, P ;

MALCOLM, S ;

WINTER, RM ;

REARDON, W .

NATURE GENETICS, 1995, 9 (02) :165-172

← 1 →