Spondylo-epi-metaphyseal dysplasia (SEMD) matrilin 3 type: homozygote matrilin 3 mutation in a novel form of SEMD

被引：56

作者：

Borochowitz, ZU

Scheffer, D

Adir, V

Dagoneau, N

Munnich, A

Cormier-Daire, V

机构：

[1] Technion Israel Inst Technol, Simon Winter Inst Human Genet, Bnai Zion Med Ctr, Rappaport Fac Med, IL-31048 Haifa, Israel

[2] Hop Necker Enfants Malad, Dept Med Genet, Paris, France

[3] Hop Necker Enfants Malad, INSERM, U393, Paris, France

来源：

JOURNAL OF MEDICAL GENETICS | 2004年 / 41卷 / 05期

关键词：

D O I：

10.1136/jmg.2003.013342

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

[No abstract available]

引用

页码：366 / 372

页数：7

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