Homozygous truncation of SIX6 causes complex microphthalmia in humans

被引:27
作者
Aldahmesh, M. A. [1 ]
Khan, A. O. [1 ,2 ]
Hijazi, H. [1 ]
Alkuraya, F. S. [1 ,3 ,4 ,5 ]
机构
[1] King Faisal Specialist Hosp & Res Ctr, Dept Genet, Riyadh 11211, Saudi Arabia
[2] King Khalid Eye Specialist Hosp, Div Pediat Ophthalmol, Riyadh, Saudi Arabia
[3] King Khalid Univ Hosp, Dept Pediat, Riyadh 11472, Saudi Arabia
[4] King Saud Univ, Coll Med, Riyadh 11461, Saudi Arabia
[5] Alfaisal Univ, Coll Med, Dept Anat & Cell Biol, Riyadh, Saudi Arabia
关键词
ANOPHTHALMIA;
D O I
10.1111/cge.12046
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
引用
收藏
页码:198 / 199
页数:2
相关论文
共 8 条
[1]   14q(22) deletion in a familial case of anophthalmia with polydactyly [J].
Ahmad, ME ;
Dada, R ;
Dada, T ;
Kucheria, K .
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2003, 120A (01) :117-122
[2]   Absence of SIX6 mutations in microphthalmia, anophthalmia, and coloboma [J].
Aijaz, S ;
Clark, BJ ;
Williamson, K ;
van Heyningen, V ;
Morrison, D ;
FitzPatrick, D ;
Collin, R ;
Ragge, N ;
Christoforou, A ;
Brown, A ;
Hanson, I .
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2004, 45 (11) :3871-3876
[3]   Dual transcriptional activities of SIX proteins define their roles in normal and ectopic eye development [J].
Anderson, Abigail M. ;
Weasner, Bonnie M. ;
Weasner, Brandon P. ;
Kumar, Justin P. .
DEVELOPMENT, 2012, 139 (05) :991-1000
[4]  
Bardakjian T, 1993, ANOPHTHALMIA MICROPH
[5]   Analysis of the developmental SIX6 homeobox gene in patients with anophthalmia/microphthalmia [J].
Gallardo, ME ;
de Córdoba, SR ;
Schneider, AS ;
Dwyer, MA ;
Ayuso, C ;
Bovolenta, P .
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2004, 129A (01) :92-94
[6]  
Li X, 2002, SCIENCE, V297, P1180
[7]   Six3 and Six6 activity is modulated by members of the groucho family [J].
López-Ríos, J ;
Tessmar, K ;
Loosli, F ;
Wittbrodt, J ;
Bovolenta, P .
DEVELOPMENT, 2003, 130 (01) :185-195
[8]   Giant eyes in Xenopus laevis by overexpression of XOptx2 [J].
Zuber, ME ;
Perron, M ;
Philpott, A ;
Bang, A ;
Harris, WA .
CELL, 1999, 98 (03) :341-352