Mutations Involving SOX8 Are Associated with a Spectrum of Human Reproductive Disorders

被引：0

作者：

Bashamboo, Anu ^{[1
]}

Portnoi, Marie France ^{[2
]}

Dumargne, Marie-Charlotte ^{[1
]}

Bignon-Topalovic, Joelle ^{[1
]}

Rouba, Hassan ^{[3
]}

Rojo, Sandra ^{[1
]}

Ravel, Celia ^{[4
]}

Persani, Luca ^{[5
]}

Achermann, John C. ^{[6
]}

Christin-Maitre, Sophie ^{[7
]}

Siffroi, Jean-Pierre ^{[2
]}

McElreavey, Ken ^{[1
]}

机构：

[1] Inst Pasteur, Paris, France

[2] Trousseau Hosp, Paris, France

[3] Inst Pasteur Morocco, Casablanca, Morocco

[4] CHU Rennes, Rennes, France

[5] Ist Auxol Italiano, Milan, Italy

[6] UCL Inst Child Hlth, London, England

[7] St Antoine Hosp, Paris, France

来源：

ENDOCRINE REVIEWS | 2014年 / 35卷 / 03期

关键词：

D O I：

暂无

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

LB-OR01-2

引用

页数：2

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[11] Additional evidence for the role of chromosomal imbalances and SOX8, ZNRF3 and HHAT gene variants in early human testis development [J].

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