Germinal mosaicism and familial recurrence of a SOX2 mutation with highly variable phenotypic expression extending from AEG syndrome to absence of ocular involvement

被引：39

作者：

Chassaing, Nicolas

Gilbert-Dussardier, Brigitte

Nicot, Florence

Fermeaux, Veronique

Encha-Razavi, Ferechte

Fiorenza, Maryse

Toutain, Annick

Calvas, Patrick

机构：

[1] Hop Purpan, Dept Med Genet, F-31059 Toulouse 09, France

[2] CHU Poitiers, Dept Med Genet, Poitiers, France

[3] CHU Limoges, Dept Pathol, Limoges, France

[4] Hop Necker Enfants Malad, Dept Histol Embryol, Paris, France

[5] CHU Bretonneau, Dept Med Genet, Tours, France

[6] Hop Purpan, Ophthalm Genet Grp, UMR 563, INSERM, Toulouse, France

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS PART A | 2007年 / 143A卷 / 03期

关键词：

D O I：

10.1002/ajmg.a.31524

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

引用

页码：289 / 291

页数：3

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