Suppr超能文献

同父异母(或同母异父)兄弟姐妹中的先天性中枢性低通气综合征和先天性巨结肠病

Congenital central hypoventilation syndrome and Hirschsprung's disease in half sibs.

作者信息

Hamilton J, Bodurtha J N

机构信息

Department of Human Genetics, Medical College of Virginia, Richmond.

出版信息

J Med Genet. 1989 Apr;26(4):272-4. doi: 10.1136/jmg.26.4.272.

Abstract

We report two infants with congenital central hypoventilation syndrome and Hirschsprung's disease who have the same father but different mothers. The genetic implications of these cases are discussed.

摘要

我们报告了两名患有先天性中枢性低通气综合征和先天性巨结肠症的婴儿,他们有同一个父亲,但母亲不同。文中讨论了这些病例的遗传学意义。

相似文献

2
Hirschsprung's disease and Ondine's curse: further evidence for a distinct syndrome.
Clin Genet. 1989 Sep;36(3):200-3. doi: 10.1111/j.1399-0004.1989.tb03189.x.
3
Hirschsprung's disease associated with Ondine's curse: a special subgroup?
J Pediatr Surg. 1995 Oct;30(10):1481-4. doi: 10.1016/0022-3468(95)90413-1.
6
Ondine's curse with Hirschsprung's disease.
Br J Neurosurg. 1990;4(2):87-93. doi: 10.3109/02688699008992705.

引用本文的文献

2
Congenital central hypoventilation syndrome: four families.先天性中枢性低通气综合征:四大家族。
Sleep Breath. 2011 Dec;15(4):785-9. doi: 10.1007/s11325-010-0439-z. Epub 2010 Nov 14.
3
Central Alveolar Hypoventilation Syndromes.中枢性肺泡低通气综合征
Sleep Med Clin. 2008 Dec 1;3(4):601-615. doi: 10.1016/j.jsmc.2008.08.006.
6
Molecular analysis of congenital central hypoventilation syndrome.先天性中枢性低通气综合征的分子分析
Hum Genet. 2003 Dec;114(1):22-6. doi: 10.1007/s00439-003-1036-z. Epub 2003 Oct 18.
7
Haddad syndrome--congenital central hypoventilation associated with Hirschsprung's disease.
Indian J Pediatr. 2003 Jul;70(7):597-9. doi: 10.1007/BF02723168.

本文引用的文献

1
Ondine's curse and neurocristopathy.
Clin Pediatr (Phila). 1980 Oct;19(10):665-8. doi: 10.1177/000992288001901004.
5
Fibromuscular dysplasia of arteries in Hirschsprung's disease.先天性巨结肠症中动脉的纤维肌性发育异常。
Gastroenterology. 1985 May;88(5 Pt 1):1099-103. doi: 10.1016/s0016-5085(85)80066-4.
6
Diaphragmatic pacing in infants: techniques and results.婴儿膈神经起搏:技术与结果
Ann Thorac Surg. 1985 Oct;40(4):323-9. doi: 10.1016/s0003-4975(10)60061-6.

文献AI研究员

20分钟写一篇综述,助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型,支持多种主流文档格式。

立即体验