Blepharophimosis-ptosis-epicanthus inversus syndrome caused by a 54-kb microdeletion in a FOXL2 cis-regulatory element

被引：7
作者：
Bouman, Arjan [1 ,3 ]
van Haelst, Mieke [1 ,2 ]
van Spaendonk, Rosalina [2 ]
机构：
[1] Acad Med Ctr, Dept Clin Genet, Amsterdam, Netherlands
[2] Vrije Univ Amsterdam, Med Ctr, Dept Clin Genet, Amsterdam, Netherlands
[3] Erasmus MC, Dept Clin Genet, Room Ee 2018, NL-3000 CA Rotterdam, Netherlands
来源：
CLINICAL DYSMORPHOLOGY | 2018年 / 27卷 / 02期
关键词：
CHROMOSOME; 3Q23; FOXL2; MUTATIONS; BPES; GENE; IDENTIFICATION; TRANSLOCATION; SEQUENCES; FEATURES; DELETION; MAPS;
D O I：
10.1097/MCD.0000000000000216
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：58 / 62
页数：5
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