Atrioventricular canal and 3C (cranio-cerebello-cardiac) syndrome.

Suppr

超能文献

作者信息

Digilio M C, Marino B, Giannotti A, Mingarelli R, Dallapiccola B

出版信息

Am J Med Genet. 1995 Jul 31;58(1):97-8. doi: 10.1002/ajmg.1320580120.

DOI:10.1002/ajmg.1320580120

PMID:7573166

Abstract

摘要

相似文献

Atrioventricular canal and 3C (cranio-cerebello-cardiac) syndrome.

Am J Med Genet. 1995 Jul 31;58(1):97-8. doi: 10.1002/ajmg.1320580120.

[Cranio-cerebello-cardiac (3C) syndrome].[颅-小脑-心脏（3C）综合征]

Ryoikibetsu Shokogun Shirizu. 2001(33):503-5.

Ritscher-Schinzel cranio-cerebello-cardiac (3C) syndrome: report of four new cases and review.里彻-申策尔颅-小脑-心脏（3C）综合征：4例新病例报告及文献复习

Am J Med Genet. 2001 Aug 15;102(3):237-42.

Does the cranio-cerebello-cardiac syndrome (3C syndrome) include abdominal malformations?颅-小脑-心脏综合征（3C综合征）是否包括腹部畸形？

Clin Dysmorphol. 1999 Oct;8(4):305-7.

Infantile glaucoma associated with cranio-cerebello-cardiac syndrome.与颅-小脑-心脏综合征相关的婴儿型青光眼。

J Pediatr Ophthalmol Strabismus. 2006 Jul-Aug;43(4):244-5. doi: 10.3928/01913913-20060701-09.

Ritscher-Schinzel cranio-cerebello-cardiac syndrome.里切尔-申策尔颅-小脑-心脏综合征

J Perinatol. 2008 Oct;28(10):715-8. doi: 10.1038/jp.2008.80.

[Acrodysostosis. A case report with cranio-facial scanning (author's transl)].

Ann Pediatr (Paris). 1981 Jun;28(6):429-32.

Segregation ratio in cranio-cerebello-cardiac syndrome.颅-小脑-心脏综合征的分离比。

Eur J Hum Genet. 2006 Sep;14(9):1054-7. doi: 10.1038/sj.ejhg.5201660. Epub 2006 May 31.

First report of glaucoma as a feature of the 3C syndrome.

Clin Dysmorphol. 1995 Apr;4(2):156-60.

The 3C syndrome: evolution of the phenotype and growth hormone deficiency.3C综合征：表型演变与生长激素缺乏症

Am J Med Genet. 1999 Nov 5;87(1):61-4. doi: 10.1002/(sici)1096-8628(19991105)87:1<61::aid-ajmg12>3.0.co;2-k.

引用本文的文献

A rare case of 3C disease: Ritscher-Schinzel syndrome presenting with recurrent talipes equinovarus.1例罕见的3C疾病：以复发性马蹄内翻足为表现的里切尔-申策尔综合征。

Int J Surg Case Rep. 2015;7C:130-3. doi: 10.1016/j.ijscr.2014.10.098. Epub 2014 Nov 6.

Absence of a del(22q11) in a patient with the 3C (craniocerebellocardiac) syndrome.一名患有3C（颅-小脑-心脏）综合征的患者不存在22q11缺失。

J Med Genet. 1998 Apr;35(4):347-8. doi: 10.1136/jmg.35.4.347-a.

Should the 3C (craniocerebellocardiac) syndrome be included in the spectrum of velocardiofacial syndrome and DiGeorge sequence?3C（颅-小脑-心脏）综合征是否应纳入腭心面综合征和迪格奥尔格序列的范畴？

J Med Genet. 1996 Aug;33(8):719-20. doi: 10.1136/jmg.33.8.719-a.

Orocardiodigital syndrome: an oral-facial-digital type II variant associated with atrioventricular canal.口心指综合征：一种与房室管相关的II型口面指综合征变异型。

J Med Genet. 1996 May;33(5):416-8. doi: 10.1136/jmg.33.5.416.

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