Late infantile Hirschsprung disease-mental retardation syndrome with a 3-bp deletion in ZFHX1B

被引：27

作者：

Yoneda, M ^{[1
]}

Fujita, T

Yamada, Y

Yamada, K

Fujii, A

Inagaki, T

Nakagawa, H

Shimada, A

Kishikawa, M

Nagaya, M

Azuma, T

Kuriyama, M

Wakamatsu, N

机构：

[1] Fukui Med Univ, Dept Internal Med 2, Matsuoka, Fukui 9101193, Japan

[2] Fujita Neurol Hosp, Fukui, Japan

[3] Aichi Human Serv Ctr, Cent Hosp, Inst Dev Res, Aichi, Japan

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

来源：

NEUROLOGY | 2002年 / 59卷 / 10期

关键词：

D O I：

10.1212/01.WNL.0000034842.78350.4E

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

A 48-year-old woman with late infantile onset mental retardation developed megacolon. Although the patient had no typical clinical features of Hirschsprung disease-mental retardation syndrome, a new 3-base pair deletion, eliminating an Asn, was identified in the responsible gene ZFHX1B. This suggests that screening for ZFHX1B mutations is warranted even in the absence of typical clinical features of the syndrome.

引用

页码：1637 / 1640

页数：4

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