Identification of a new TWIST mutation (7p21) with variable eyelid manifestations supports locus homogeneity of BPES at 3q22

被引：16
作者：
Dollfus, H
Kumaramanickavel, G
Biswas, P
Stoetzel, C
Quillet, R
Denton, M
Maw, M
Perrin-Schmitt, F
机构：
[1] Fac Med Strasbourg, CNRS, INSERM, U184,LGME, F-67085 Strasbourg, France
[2] Sankara Nethralaya Med Res Fdn, Chennai, India
[3] Anandalok, Kolkata, W Bengal, India
[4] Univ Otago, Dept Biochem, Dunedin, New Zealand
来源：
JOURNAL OF MEDICAL GENETICS | 2001年 / 38卷 / 07期
关键词：
D O I：
10.1136/jmg.38.7.470
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
引用
收藏
页码：470 / 471
页数：2
相关论文
共 22 条
  • [11] Mutations in TWIST, a basic helix-loop-helix transcription factor, in Saethre-Chotzen syndrome
    Howard, TD
    Paznekas, WA
    Green, ED
    Chiang, LC
    Ma, N
    DeLuna, RIO
    Delgado, CG
    GonzalezRamos, M
    Kline, AD
    Jabs, EW
    [J]. NATURE GENETICS, 1997, 15 (01) : 36 - 41
  • [12] A comprehensive screen for TWIST mutations in patients with craniosynostosis identifies a new microdeletion syndrome of chromosome band 7p21.1
    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
    [J]. AMERICAN JOURNAL OF HUMAN GENETICS, 1998, 63 (05) : 1282 - 1293
  • [13] DEFINITION OF THE BLEPHAROPHIMOSIS, PTOSIS, EPICANTHUS INVERSUS SYNDROME CRITICAL REGION AT CHROMOSOME 3Q23 BASED ON THE ANALYSIS OF CHROMOSOMAL-ANOMALIES
    LAWSON, CT
    TOOMES, C
    FRYER, A
    CARETTE, MJM
    TAYLOR, GM
    FUKUSHIMA, Y
    DIXON, MJ
    [J]. HUMAN MOLECULAR GENETICS, 1995, 4 (05) : 963 - 967
  • [14] Linkage of blepharophimosis syndrome in a large Indian pedigree to chromosome 7p
    Maw, M
    Kar, B
    Biswas, J
    Biswas, P
    Nancarrow, D
    Bridges, R
    Kumaramanickavel, G
    Denton, M
    Badrinath, SS
    [J]. HUMAN MOLECULAR GENETICS, 1996, 5 (12) : 2049 - 2054
  • [15] Pantke O A, 1975, Birth Defects Orig Artic Ser, V11, P190
  • [16] SAETHRE-CHOTZEN SYNDROME
    REARDON, W
    WINTER, RM
    [J]. JOURNAL OF MEDICAL GENETICS, 1994, 31 (05) : 393 - 396
  • [17] The TWIST gene, although not disrupted in Saethre-Chotzen patients with apparently balanced translocations of 7p21, is mutated in familial and sporadic cases
    Rose, CSP
    Patel, P
    Reardon, W
    Malcolm, S
    Winter, RM
    [J]. HUMAN MOLECULAR GENETICS, 1997, 6 (08) : 1369 - 1373
  • [18] BLEPHAROPHIMOSIS SYNDROME IS LINKED TO CHROMOSOME 3Q
    SMALL, KW
    STALVEY, M
    FISHER, L
    MULLEN, L
    DICKEL, C
    BEADLES, K
    REIMER, R
    LESSNER, A
    LEWIS, K
    PERICAKVANCE, MA
    [J]. HUMAN MOLECULAR GENETICS, 1995, 4 (03) : 443 - 448
  • [19] BLEPHAROPHIMOSIS, PTOSIS, EPICANTHUS INVERSUS, AND PRIMARY AMENORRHEA - DOMINANT TRAIT
    TOWNES, PL
    MUECHLER, EK
    [J]. ARCHIVES OF OPHTHALMOLOGY, 1979, 97 (09) : 1664 - 1666
  • [20] MILD PHENOTYPIC MANIFESTATION OF A 7P15.3P21.2 DELETION
    WANG, C
    MAYNARD, S
    GLOVER, TW
    BIESECKER, LG
    [J]. JOURNAL OF MEDICAL GENETICS, 1993, 30 (07) : 610 - 612
123