A novel 17 bp deletion in the PHOX2B gene causes congenital central hypoventilation syndrome with total aganglionosis of the small and large intestine

被引：6

作者：

Holzinger, A

Mittal, RA

Kachel, W

Priessmann, H

Hammel, M

Ihrler, S

Till, H

Münch, HG

机构：

[1] Univ Munich, Dr Von Haunerschen Kinderspital, D-80337 Munich, Germany

[2] SLK Kliniken, Childrens Hosp, Heilbronn, Germany

[3] Univ Munich, Inst Pathol, Munich, Germany

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS PART A | 2005年 / 139A卷 / 01期

关键词：

D O I：

10.1002/ajmg.a.30975

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

引用

页码：50 / 51

页数：2

共 6 条

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