Recurrence of SOX2 anophthalmia syndrome with gonosomal mosaicism in a phenotypically normal mother

被引：49

作者：

Faivre, L

Williamson, KA

Faber, V

Laurent, N

Grimaldi, M

Thauvin-Robinet, C

Durand, C

Mugneret, F

Gouyon, JB

Bron, A

Huet, F

Hayward, C

van Heyningen, V

FitzPatrick, DR

机构：

[1] Hop Enfants, Ctr Genet, F-21034 Dijon, France

[2] Western Gen Hosp, MRC, Human Genet Unit, Edinburgh EH4 2XU, Midlothian, Scotland

[3] Hop Enfants, Serv Pediat, F-21034 Dijon, France

[4] CHU Bocage, Serv Anat Pathol, Dijon, France

[5] Hop Enfants, Serv Radiol, F-21034 Dijon, France

[6] CHU Bocage, Cytogenet Serv, Dijon, France

[7] CHU Bocage, Serv Opthalmol, Dijon, France

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS PART A | 2006年 / 140A卷 / 06期

基金：

英国医学研究理事会;

关键词：

D O I：

10.1002/ajmg.a.31114

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

引用

页码：636 / 639

页数：4

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