Identification of eight novel NSD1 mutations in Sotos syndrome -: art. no. 126

被引：26

作者：

Kamimura, J

Endo, Y

Kurotaki, N

Kinoshita, A

Miyake, N

Shimokawa, O

Harada, N

Visser, R

Ohashi, H

Miyakawa, K

Gerritsen, J

Innes, AM

Lagace, L

Frydman, M

Okamoto, N

Puttinger, R

Raskin, S

Resic, B

Culic, V

Yoshiura, K

Ohta, T

Kishino, T

Ishikawa, M

Niikawa, N

Matsumoto, N

机构：

[1] Nagasaki Univ, Grad Sch Biomed Sci, Dept Human Genet, Nagasaki 852, Japan

[2] Asahikawa Med Coll, Dept Obstet & Gynecol, Asahikawa, Hokkaido 078, Japan

[3] Japan Sci & Technol Corp, CREST, Kawaguchi, Japan

[4] Kyushu Med Sci Nagasaki Lab, Nagasaki, Japan

[5] Nagasaki Univ, Res Ctr Frontier Life Sci, Div Funct Genom, Nagasaki 852, Japan

[6] 21st Century COE, Int Consortium Med Care Hibakusha & Radiat Life S, Nagasaki, Japan

[7] Leiden Univ, Med Ctr, Dept Pediat, Leiden, Netherlands

[8] Saitama Childrens Med Ctr, Div Med Genet, Saitama, Japan

[9] Niigata City Gen Hosp, Div Pediat, Niigata, Japan

[10] Univ Calgary, Dept Med Genet, Calgary, AB, Canada

[11] E Cent Hlth, Camrose, AB, Canada

[12] Tel Aviv Univ, Chaim Sheba Med Ctr, Danek Gertner Inst Human Genet, Ramat Gan, Israel

[13] Osaka Med Ctr, Dept Planning & Res, Izumi, Japan

[14] Res Inst Maternal & Child Hlth, Izumi, Japan

[15] St Johanns Spital, Salzburg, Austria

[16] Genet Lab, Curitiba, Parana, Brazil

[17] Clin Hosp Split, Pediat Clin, Dept Dev Neurol & Med Genet, Spinciceva, Croatia

来源：

JOURNAL OF MEDICAL GENETICS | 2003年 / 40卷 / 11期

关键词：

D O I：

10.1136/jmg.40.11.e126

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

[No abstract available]

引用

页数：3

共 30 条

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