Tricho-rhino-phalangeal type I syndrome and mental retardation: Identification of a novel mutation in the TRPS1 gene

被引:6
作者
Gonzalez-Huerta, Luz M.
Cuevas-Covarrubias, Sergio A. [1 ]
Messina-Baas, Olga M.
机构
[1] Gen Hosp, Serv Genet, Mexico City, DF, Mexico
[2] Univ Nacl Autonoma Mexico, Gen Hosp, Fac Med, Serv Genet, Mexico City 04510, DF, Mexico
[3] Univ Nacl Autonoma Mexico, Gen Hosp, Fac Med, Serv Oftalmol, Mexico City, DF, Mexico
关键词
TRPS1; gene; TRIPS I syndrome; tricho-rhino-phatangeal;
D O I
10.1016/j.jdermsci.2007.06.005
中图分类号
R75 [皮肤病学与性病学];
学科分类号
100206 ;
摘要
引用
收藏
页码:61 / 63
页数:3
相关论文
共 10 条
[1]  
GIEDION A, 1966, HELV PAEDIATR ACTA, V21, P475
[2]  
GIEDION A, 1973, HELV PAEDIATR ACTA, V28, P249
[3]   Nonsense-mediated decay approaches the clinic [J].
Holbrook, JA ;
Neu-Yilik, G ;
Hentze, MW ;
Kulozik, AE .
NATURE GENETICS, 2004, 36 (08) :801-808
[4]   THE TRICHO-RHINO-PHALANGEAL SYNDROME WITH EXOSTOSES (OR LANGER-GIEDION SYNDROME) - 4 ADDITIONAL PATIENTS WITHOUT MENTAL-RETARDATION AND REVIEW OF THE LITERATURE [J].
LANGER, LO ;
KRASSIKOFF, N ;
LAXOVA, R ;
SCHEERWILLIAMS, M ;
LUTTER, LD ;
GORLIN, RJ ;
JENNINGS, CG ;
DAY, DW .
AMERICAN JOURNAL OF MEDICAL GENETICS, 1984, 19 (01) :81-112
[5]   MOLECULAR DISSECTION OF A CONTIGUOUS GENE SYNDROME - LOCALIZATION OF THE GENES INVOLVED IN THE LANGER-GIEDION SYNDROME [J].
LUDECKE, HJ ;
WAGNER, MJ ;
NARDMANN, J ;
LAPILLO, B ;
PARRISH, JE ;
WILLEMS, PJ ;
HAAN, EA ;
FRYDMAN, M ;
HAMERS, GJH ;
WELLS, DE ;
HORSTHEMKE, B .
HUMAN MOLECULAR GENETICS, 1995, 4 (01) :31-36
[6]   Genotypic and phenotypic spectrum in tricho-rhino-phalangeal syndrome types I and III [J].
Lüdecke, HJ ;
Schaper, J ;
Meinecke, P ;
Momeni, P ;
Gross, S ;
von Holtum, D ;
Hirche, H ;
Abramowicz, MJ ;
Albrecht, B ;
Apacik, C ;
Christen, HJ ;
Claussen, U ;
Devriendt, K ;
Fastnacht, E ;
Forderer, A ;
Friedrich, U ;
Goodship, THJ ;
Greiwe, M ;
Hamm, H ;
Hennekam, RCM ;
Hinkel, GK ;
Hoeltzenbein, M ;
Kayserili, H ;
Majewski, F ;
Mathieu, M ;
McLeod, R ;
Midro, AT ;
Moog, U ;
Nagai, T ;
Niikawa, N ;
Orstavik, KH ;
Plöchl, E ;
Seitz, C ;
Schmidtke, J ;
Tranebjærg, L ;
Tsukahara, M ;
Wittwer, B ;
Zabel, B ;
Gillessen-Kaesbach, G ;
Horsthemke, B .
AMERICAN JOURNAL OF HUMAN GENETICS, 2001, 68 (01) :81-91
[7]  
LUDECKE HJ, 1991, AM J HUM GENET, V49, P1197
[8]   Mutations in a new gene, encoding a zinc-finger protein, cause tricho-rhino-phalangeal syndrome type I [J].
Momeni, P ;
Glöckner, G ;
Schmidt, O ;
von Holtum, D ;
Albrecht, B ;
Gillessen-Kaesbach, G ;
Hennekam, R ;
Meinecke, P ;
Zabel, B ;
Rosenthal, A ;
Horsthemke, B ;
Lüdecke, HJ .
NATURE GENETICS, 2000, 24 (01) :71-74
[9]   THE SUGIO-KAJII SYNDROME, PROPOSED TRICHORHINOPHALANGEAL SYNDROME TYPE-III [J].
NIIKAWA, N ;
KAMEI, T .
AMERICAN JOURNAL OF MEDICAL GENETICS, 1986, 24 (04) :759-760
[10]   Zinc finger-mediated protein interactions modulate Ikaros activity, a molecular control of lymphocyte development [J].
Sun, L ;
Liu, AP ;
Georgopoulos, K .
EMBO JOURNAL, 1996, 15 (19) :5358-5369