Novel mutations in the gene SALL4 provide further evidence for acro-renal-ocular and Okihiro syndromes being allelic entities, and extend the phenotypic spectrum -: art. no. e102

被引：48

作者：

Borozdin, W

Wright, MJ

Hennekam, RCM

Hannibal, MC

Crow, YJ

Neumann, TE

Kohlhase, J

机构：

[1] Univ Gottingen, Inst Humangenet, D-3400 Gottingen, Germany

[2] Int Ctr Life, Inst Human Genet, Newcastle Upon Tyne, Tyne & Wear, England

[3] Univ Amsterdam, Acad Med Ctr, Dept Pediat, NL-1105 AZ Amsterdam, Netherlands

[4] Univ Amsterdam, Acad Med Ctr, Dept Clin Genet, NL-1105 AZ Amsterdam, Netherlands

[5] Univ Washington, Div Genet & Dev, Dept Pediat, Seattle, WA 98195 USA

[6] St James Univ Hosp, Dept Clin Genet, Leeds LS9 7TF, W Yorkshire, England

[7] Univ Munster, Inst Human Genet, D-4400 Munster, Germany

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

来源：

JOURNAL OF MEDICAL GENETICS | 2004年 / 41卷 / 08期

关键词：

D O I：

10.1136/jmg.2004.019505

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

引用

页数：5

共 16 条

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