Sotos syndrome and haploinsufficiency of NSD1:: clinical features of intragenic mutations and submicroscopic deletions

被引：87

作者：

Nagai, T

Matsumoto, N

Kurotaki, N

Harada, N

Niikawa, N

Ogata, T

Imaizumi, K

Kurosawa, K

Kondoh, T

Ohashi, H

Tsukahara, M

Makita, Y

Sugimoto, T

Sonoda, T

Yokoyama, T

Uetake, K

Sakazume, S

Fukushima, Y

Naritomi, K

机构：

[1] Dokkyo Univ, Sch Med, Koshigaya Hosp, Dept Paediat, Koshigaya, Saitama 3438555, Japan

[2] Nagasaki Univ, Sch Med, Dept Human Genet, Nagasaki 852, Japan

[3] Natl Res Inst Child Hlth & Dev, Dept Endocrinol & Metab, Tokyo, Japan

[4] Kanagawa Childrens Med Ctr, Div Med Genet, Yokohama, Kanagawa, Japan

[5] Nagasaki Univ, Sch Med, Dept Paediat, Nagasaki 852, Japan

[6] Saitama Childrens Med Ctr, Div Med Genet, Iwatsuki, Saitama, Japan

[7] Yamaguchi Univ, Sch Med, Fac Hlth Sci, Ube, Yamaguchi 755, Japan

[8] Asahikawa Med Coll, Dept Paediat, Asahikawa, Hokkaido 078, Japan

[9] Kansai Med Univ, Otokoyama Hosp, Dept Paediat, Yawata, Japan

[10] Miyazaki Med Coll, Dept Paediat, Miyazaki 88916, Japan

[11] Tokyo Metropolitan Kiyose Childrens Hosp, Dept Paediat, Tokyo, Japan

[12] Obihirokousei Hosp, Dept Paediat, Obihiro, Hokkaido, Japan

[13] Shinshu Univ, Sch Med, Dept Med Genet, Matsumoto, Nagano 390, Japan

[14] Univ Ryukyus, Sch Med, Dept Med Genet, Okinawa, Japan

来源：

JOURNAL OF MEDICAL GENETICS | 2003年 / 40卷 / 04期

关键词：

D O I：

10.1136/jmg.40.4.285

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：285 / 289

页数：5

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