A novel mutation in the TWIST gene, implicated in Saethre-Chotzen syndrome, is found in the original case of Robinow-Sorauf syndrome

被引:7
作者
Cai, J [1 ]
Shoo, BA [1 ]
Sorauf, T [1 ]
Jabs, EW [1 ]
机构
[1] Johns Hopkins Univ Hosp, CMSC 1004, Baltimore, MD 21287 USA
关键词
D O I
10.1034/j.1399-0004.2003.00098.x
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
引用
收藏
页码:79 / 82
页数:4
相关论文
共 18 条
[11]   A comprehensive screen for TWIST mutations in patients with craniosynostosis identifies a new microdeletion syndrome of chromosome band 7p21.1 [J].
Johnson, D ;
Horsley, SW ;
Moloney, DM ;
Oldridge, M ;
Twigg, SRF ;
Walsh, S ;
Barrow, M ;
Njolstad, PR ;
Kunz, J ;
Ashworth, GJ ;
Wall, SA ;
Kearney, L ;
Wilkie, AOM .
AMERICAN JOURNAL OF HUMAN GENETICS, 1998, 63 (05) :1282-1293
[12]  
Kunz J, 1999, J MED GENET, V36, P650
[13]   AURALCEPHALOSYNDACTYLY - A NEW CRANIOSYNOSTOSIS SYNDROME OR A VARIANT OF THE SAETHRE-CHOTZEN SYNDROME [J].
LEGIUS, E ;
FRYNS, JP ;
VANDENBERGHE, H .
JOURNAL OF MEDICAL GENETICS, 1989, 26 (08) :522-524
[14]   Genetic heterogeneity of Saethre-Chotzen syndrome, due to TWIST and FGFR mutations [J].
Paznekas, WA ;
Cunningham, ML ;
Howard, TD ;
Korf, BR ;
Lipson, MH ;
Grix, AW ;
Feingold, M ;
Goldberg, R ;
Borochowitz, Z ;
Aleck, K ;
Mulliken, J ;
Yin, MF ;
Jabs, EW .
AMERICAN JOURNAL OF HUMAN GENETICS, 1998, 62 (06) :1370-1380
[15]  
Robinow M, 1975, Birth Defects Orig Artic Ser, V11, P99
[16]  
Saethre M, 1931, Dtsch Z Nervenheilk, V119, P533
[17]  
TEMTAMY S, 1969, LIMB MALFORMATIONS, P125
[18]  
ZACKI EH, 1998, AM J HUM GENET S, V63, pA18