Adult identified with congenital central hypoventilation syndrome-mutation in PHOX2b gene and late-onset CHS

被引:67
作者
Weese-Mayer, DE [1 ]
Berry-Kravis, EM [1 ]
Zhou, LL [1 ]
机构
[1] Rush Univ, Ctr Med, Chicago, IL 60612 USA
关键词
D O I
10.1164/ajrccm.171.1.950
中图分类号
R4 [临床医学];
学科分类号
1002 ; 100602 ;
摘要
引用
收藏
页码:88 / 88
页数:1
相关论文
共 2 条
[1]   Genetics of congenital central hypoventilation syndrome - Lessons from a seemingly orphan disease [J].
Weese-Mayer, DE ;
Berry-Kravis, EM .
AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE, 2004, 170 (01) :16-21
[2]   Idiopathic congenital central hypoventilation syndrome: Analysis of genes pertinent to early autonomic nervous system embryologic development and identification of mutations in PHOX2b [J].
Weese-Mayer, DE ;
Berry-Kravis, EM ;
Zhou, LL ;
Maher, BS ;
Silvestri, JM ;
Curran, ME ;
Marazita, ML .
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2003, 123A (03) :267-278