FOXL2 mutations in Indian families with blepharophimosis-ptosis-epicanthus inversus syndrome

被引：11
|
作者：
Nallathambi, Jeyabalan
Neethirajan, Guruswamy
Usha, Kim
Jitendra, Jethani
De Baere, Elfride
Sundaresan, Periasamy [1 ]
机构：
[1] Aravind Eye Hosp, Aravind Med Res Fdn, Dept Genet, G Venkataswamy Eye Res Inst, Madurai 625020, Tamil Nadu, India
[2] Aravind Eye Hosp, Orbit Clin, Madurai 625020, Tamil Nadu, India
[3] Aravind Eye Hosp, Dept Pediat Ophthalmol & Strabismus, Madurai 625020, Tamil Nadu, India
[4] State Univ Ghent Hosp, Ctr Genet Med, B-9000 Ghent, Belgium
来源：
JOURNAL OF GENETICS | 2007年 / 86卷 / 02期
关键词：
BPES syndrome; FOXL2; gene; haploinsufficiency; premature ovarian failure (POF); FOXL2 polyalanine expansion; genetic counseling;
D O I：
10.1007/s12041-007-0021-z
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
[No abstract available]
引用
收藏
页码：165 / 168
页数：4
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