CNS malformations in Knobloch syndrome with splice mutation in COL18A1 gene

被引：32

作者：

Keren, Boris

Suzuki, Oscar T.

Gerard-Blanluet, Marion

Bremond-Gignac, Dominique

Ehnaleh, Monique

Titomanlio, Luigi

Delezoide, Anne-Lise

Passos-Bueno, Maria Rita

Verloes, Alain

机构：

[1] Robert Debre Univ Hosp, APHP, Dept Med Genet, Clin Genet Unit, Paris, France

[2] Univ Sao Paulo, Human Genome Ctr, Dept Genet & Evolut Biol, Inst Biosci, Sao Paulo, Brazil

[3] Robert Debre Univ Hosp, APHP, Dept Ophthalmol, Paris, France

[4] Robert Debre Univ Hosp, APHP, INSERM, U6764, Paris, France

[5] Robert Debre Univ Hosp, APHP, Dept Med Imaging, Paris, France

[6] Robert Debre Univ Hosp, APHP, Dept Neuropediat, Paris, France

[7] Robert Debre Univ Hosp, APHP, Dept Fetal Pathol, Paris, France

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS PART A | 2007年 / 143A卷 / 13期

关键词：

COLLAGEN-XVIII; ENDOGENOUS INHIBITOR; MOLECULAR ANALYSIS; TUMOR-GROWTH; ENDOSTATIN; ABNORMALITIES; HETEROGENEITY; ANGIOGENESIS; DEGENERATION; INFORMATION;

D O I：

10.1002/ajmg.a.31784

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

引用

页码：1514 / 1518

页数：5

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