Pulmonary artery sling and congenital tracheal stenosis in another patient with Mowat-Wilson syndrome. - Suppr | 超能文献

Pulmonary artery sling and congenital tracheal stenosis in another patient with Mowat-Wilson syndrome.

作者信息

Strenge Sibylle, Heinritz Wolfram, Zweier Christiane, Rauch Anita, Rolle Udo, Merkenschlager Andreas, Froster Ursula G

出版信息

Am J Med Genet A. 2007 Jul 1;143A(13):1528-30. doi: 10.1002/ajmg.a.31801.

DOI:10.1002/ajmg.a.31801

Abstract

摘要

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。

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

文档翻译

学术文献翻译模型，支持多种主流文档格式。

相似文献

1

Pulmonary artery sling and congenital tracheal stenosis in another patient with Mowat-Wilson syndrome.

Am J Med Genet A. 2007 Jul 1;143A(13):1528-30. doi: 10.1002/ajmg.a.31801.

2

Mowat-Wilson syndrome and mutation in the zinc finger homeo box 1B gene: a well defined clinical entity.莫瓦特-威尔逊综合征与锌指同源盒1B基因的突变：一种明确的临床实体。

J Med Genet. 2004 Feb;41(2):e16. doi: 10.1136/jmg.2003.009548.

3

Mowat-Wilson syndrome.莫瓦特-威尔逊综合征

J Med Genet. 2003 May;40(5):305-10. doi: 10.1136/jmg.40.5.305.

4

Congenital tracheal stenosis in Mowat-Wilson syndrome with nonsense mutation of ZEB2 gene.伴有ZEB2基因无义突变的莫瓦特-威尔逊综合征中的先天性气管狭窄。

Pediatr Neonatol. 2024 Mar;65(2):202-203. doi: 10.1016/j.pedneo.2023.09.001. Epub 2023 Oct 21.

5

Clinical features and management issues in Mowat-Wilson syndrome.莫瓦特-威尔逊综合征的临床特征及管理问题

Am J Med Genet A. 2006 Dec 15;140(24):2730-41. doi: 10.1002/ajmg.a.31530.

6

Hirschsprung disease, mental retardation, characteristic facial features, and mutation in the gene ZFHX1B (SIP1): confirmation of the Mowat-Wilson syndrome.先天性巨结肠、智力发育迟缓、特征性面部特征以及ZFHX1B（SIP1）基因突变：莫瓦特-威尔逊综合征的确诊

Am J Med Genet A. 2003 Feb 1;116A(4):385-8. doi: 10.1002/ajmg.a.10855.

7

Characterisation of deletions of the ZFHX1B region and genotype-phenotype analysis in Mowat-Wilson syndrome.Mowat-Wilson综合征中ZFHX1B区域缺失的特征分析及基因型-表型分析

J Med Genet. 2003 Aug;40(8):601-5. doi: 10.1136/jmg.40.8.601.

8

A missense mutation in the ZFHX1B gene associated with an atypical Mowat-Wilson syndrome phenotype.与非典型莫瓦特-威尔逊综合征表型相关的ZFHX1B基因中的错义突变。

Am J Med Genet A. 2006 Jun 1;140(11):1223-7. doi: 10.1002/ajmg.a.31267.

9

Severe clinical course of Hirschsprung disease in a Mowat-Wilson syndrome patient.Mowat-Wilson 综合征患者先天性巨结肠病的严重临床过程。

J Appl Genet. 2010;51(1):111-3. doi: 10.1007/BF03195718.

10

Mowat-Wilson syndrome: facial phenotype changing with age: study of 19 Italian patients and review of the literature.莫瓦特-威尔逊综合征：面部表型随年龄变化：19例意大利患者的研究及文献综述

Am J Med Genet A. 2009 Mar;149A(3):417-26. doi: 10.1002/ajmg.a.32693.

引用本文的文献

1

Nonlinear expression and visualization of nonmetric relationships in genetic diseases and microbiome data.遗传疾病和微生物组数据中非度量关系的非线性表达和可视化。

BMC Bioinformatics. 2018 Dec 21;19(Suppl 20):505. doi: 10.1186/s12859-018-2537-z.

2

Hirschsprung's disease in children with Mowat-Wilson syndrome.患有莫瓦特-威尔逊综合征儿童的先天性巨结肠症。

Pediatr Surg Int. 2015 Aug;31(8):711-7. doi: 10.1007/s00383-015-3732-x. Epub 2015 Jul 9.

3

Clinical utility gene card for: Mowat-Wilson syndrome.Mowat-Wilson综合征的临床实用基因卡片

Eur J Hum Genet. 2011 Aug;19(8). doi: 10.1038/ejhg.2011.12. Epub 2011 Feb 23.