里切尔-申策尔颅-小脑-心脏综合征 - Suppr

Ritscher-Schinzel cranio-cerebello-cardiac syndrome.

作者信息

Herman T E, Siegel M J

机构信息

Department of Radiology, Mallinckrodt Institute of Radiology, St Louis Children's Hospital, Washington University School of Medicine, St Louis, MO 63110, USA.

出版信息

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

DOI:10.1038/jp.2008.80

PMID:18825150

Abstract

摘要

相似文献

Ritscher-Schinzel cranio-cerebello-cardiac syndrome.

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

Ritscher-Schinzel cranio-cerebello-cardiac (3C) syndrome: report of four new cases and review.

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

A preterm infant with prolonged respiratory problems due to Ritscher-Schinzel syndrome.

Genet Couns. 2012;23(3):383-7.

3-C Ritscher-Schinzel syndrome with spinal subarachnoid cyst.

J Perinatol. 2015 Mar;35(3):233-4. doi: 10.1038/jp.2014.220.

3C syndrome with cryptorchidism and posterior embryotoxon.

Clin Dysmorphol. 2005 Apr;14(2):97-100.

Sibs with Ritscher-Schinzel (3C) syndrome and anal malformations.

Am J Med Genet. 1998 Jan 23;75(3):300-3.

[A phenotypic description of 26 patients with Ritscher-Schinzel syndrome (cranio-cerebello-cardiac dysplasia or 3C syndrome)].

Rev Neurol. 2017 Jun 1;64(11):481-488.

Ritscher-Schinzel (cranio-cerebello-cardiac, 3C) syndrome: report of four new cases with renal involvement.

Am J Med Genet A. 2011 Jun;155A(6):1393-7. doi: 10.1002/ajmg.a.33966. Epub 2011 May 12.

Expansion of the CCDC22 associated Ritscher-Schinzel/3C syndrome and review of the literature: Should the minimal diagnostic criteria be revised?

Eur J Med Genet. 2021 Jul;64(7):104246. doi: 10.1016/j.ejmg.2021.104246. Epub 2021 May 18.

Missense variant in CCDC22 causes X-linked recessive intellectual disability with features of Ritscher-Schinzel/3C syndrome.

Eur J Hum Genet. 2015 May;23(5):633-8. doi: 10.1038/ejhg.2014.109. Epub 2014 Jun 11.

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

相似文献

Ritscher-Schinzel cranio-cerebello-cardiac syndrome.

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

Ritscher-Schinzel cranio-cerebello-cardiac (3C) syndrome: report of four new cases and review.

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

A preterm infant with prolonged respiratory problems due to Ritscher-Schinzel syndrome.

Genet Couns. 2012;23(3):383-7.

3-C Ritscher-Schinzel syndrome with spinal subarachnoid cyst.

J Perinatol. 2015 Mar;35(3):233-4. doi: 10.1038/jp.2014.220.

3C syndrome with cryptorchidism and posterior embryotoxon.

Clin Dysmorphol. 2005 Apr;14(2):97-100.

Sibs with Ritscher-Schinzel (3C) syndrome and anal malformations.

Am J Med Genet. 1998 Jan 23;75(3):300-3.

[A phenotypic description of 26 patients with Ritscher-Schinzel syndrome (cranio-cerebello-cardiac dysplasia or 3C syndrome)].

Rev Neurol. 2017 Jun 1;64(11):481-488.

Ritscher-Schinzel (cranio-cerebello-cardiac, 3C) syndrome: report of four new cases with renal involvement.

Am J Med Genet A. 2011 Jun;155A(6):1393-7. doi: 10.1002/ajmg.a.33966. Epub 2011 May 12.

Expansion of the CCDC22 associated Ritscher-Schinzel/3C syndrome and review of the literature: Should the minimal diagnostic criteria be revised?

Eur J Med Genet. 2021 Jul;64(7):104246. doi: 10.1016/j.ejmg.2021.104246. Epub 2021 May 18.

Missense variant in CCDC22 causes X-linked recessive intellectual disability with features of Ritscher-Schinzel/3C syndrome.

Eur J Hum Genet. 2015 May;23(5):633-8. doi: 10.1038/ejhg.2014.109. Epub 2014 Jun 11.

Ritscher-Schinzel cranio-cerebello-cardiac syndrome.

作者信息

Herman T E, Siegel M J

机构信息

Department of Radiology, Mallinckrodt Institute of Radiology, St Louis Children's Hospital, Washington University School of Medicine, St Louis, MO 63110, USA.

出版信息

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

DOI:10.1038/jp.2008.80

PMID:18825150

Abstract

摘要

Ritscher-Schinzel cranio-cerebello-cardiac syndrome.

作者信息

机构信息

出版信息

相似文献

文献AI研究员

用中文搜PubMed

文档翻译

Suppr 超能文献

相似文献

Ritscher-Schinzel cranio-cerebello-cardiac syndrome.

作者信息

机构信息

出版信息