Clinical and molecular analysis of Mowat-Wilson syndrome associated with ZFHX1B mutations and deletions at 2q22-q24.1

被引：68

作者：

Ishihara, N

Yamada, K

Yamada, Y

Miura, K

Kato, J

Kuwabara, N

Hara, Y

Kobayashi, Y

Hoshino, K

Nomura, Y

Mimaki, M

Ohya, K

Matsushima, M

Nitta, H

Tanaka, K

Segawa, M

Ohki, T

Ezoe, T

Kumagai, T

Onuma, A

Kuroda, T

Yoneda, M

Yamanaka, T

Saeki, M

Segawa, M

Saji, T

Nagaya, M

Wakamatsu, N

机构：

[1] Aichi Human Serv Ctr, Inst Dev Res, Dept Genet, Aichi 4800392, Japan

[2] Nagoya Univ, Grad Sch Med, Dept Pediat, Aichi, Japan

[3] Cent Hosp, Aichi Human Serv Ctr, Dept Pediat Neurol, Aichi, Japan

[4] Cent Hosp, Aichi Human Serv Ctr, Dept Pediat Surg, Aichi, Japan

[5] Gifu Prefectural Hosp, Dept Pediat Cardiol, Gifu, Japan

[6] Obama Publ Hosp, Dept Pediat, Fukui, Japan

[7] Takutoh Rehabil Ctr Children, Div Pediat Neurol, Sendai, Miyagi, Japan

[8] Segawa Neurol Clin Children, Tokyo, Japan

[9] Chigasaki Municipal Hosp, Dept Pediat, Kanagawa, Japan

[10] Aomori Cent Hosp, Dept Pediat, Aomori, Japan

[11] Social Insurance Chukyo Hosp, Dept Pediat Cardiol, Nagoya, Aichi, Japan

[12] Hamagumi Med & Educ Ctr Handicapped Children, Dept Pediat, Niigata, Japan

[13] Niigata Univ, Brain Res Inst, Dept Neurol, Niigata 951, Japan

[14] Toho Univ, Dept Pediat 1, Div Pediat Cardiol, Tokyo, Japan

[15] Tokyo Metropolitan Higashiyamato Med Ctr Handicap, Dept Pediat Neurol, Tokyo, Japan

[16] Natl Ctr Child Hlth & Dev, Dept Surg, Tokyo, Japan

[17] Fukui Med Univ, Dept Internal Med 2, Fukui, Japan

来源：

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

关键词：

D O I：

10.1136/jmg.2003.016154

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：387 / 393

页数：7

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