Screening of the 1 Mb SOX9 5′ control region by array CGH identifies a large deletion in a case of campomelic dysplasia with XY sex reversal -: art. no. e47

被引：68

作者：

Pop, R

Conz, C

Lindenberg, KS

Blesson, S

Schmalenberger, B

Briault, S

Pfeifer, D

Scherer, G

机构：

[1] Univ Freiburg, Inst Human Genet & Anthropol, D-79106 Freiburg, Germany

[2] Univ Freiburg, Fac Biol, D-79106 Freiburg, Germany

[3] BioChip Technol GmbH, Freiburg, Germany

[4] Hop Bretonneau, Serv Genet, Tours, France

来源：

JOURNAL OF MEDICAL GENETICS | 2004年 / 41卷 / 04期

关键词：

D O I：

10.1136/jmg.2003.013185

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

引用

页数：8

共 35 条

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