Second‐trimester prenatal diagnosis of Nager syndrome with a deletion including SF3B4 detected by chromosomal microarray-Reference-Cited by-同舟云学术

Second‐trimester prenatal diagnosis of Nager syndrome with a deletion including SF3B4 detected by chromosomal microarray

Published:2020-02-06 Issue:3 Volume:8 Page:508-511
ISSN:2050-0904
Container-title:Clinical Case Reports
language:en
Short-container-title:Clin Case Rep

Author:

Drozniewska Malgorzata¹^ORCID,Kilby Mark D.²³^ORCID,Vogt Julie⁴,Togneri Fiona¹^ORCID,Quinlan‐Jones Elizabeth²^ORCID,Reali Lisa¹,Allen Stephanie¹,McMullan Dominic¹^ORCID

Affiliation:

1. West Midlands Regional Genetics Laboratory Birmingham Women’s & Children’s NHS Foundation Trust Birmingham UK

2. Fetal Medicine Centre Birmingham Women's & Children’s NHS Foundation Trust Birmingham UK

3. Birmingham Centre for Women's and New‐born Health College of Medical and Dental Sciences Institute of Metabolism and Systems Research University of Birmingham Birmingham UK

4. Clinical Genetics Unit West Midlands Regional Genetics Service Birmingham Women’s & Children’s NHS Foundation Trust Birmingham UK

Publisher

Wiley

Subject

General Medicine

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ccr3.2509

Reference10 articles.

1. Prenatal diagnosis of Nager syndrome in a monochorionic-diamniotic twin pregnancy

2. Prenatal diagnosis of Nager syndrome in the third trimester of pregnancy and anatomopathological correlation

3. Nager Syndrome: A Case Report

4. A 22-Week-Old Fetus with Nager Syndrome and Congenital Diaphragmatic Hernia due to a NovelSF3B4Mutation

5. Nager syndrome: confirmation ofSF3B4haploinsufficiency as the major cause

Cited by 7 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Etiology of Craniofacial and Cardiac Malformations in a Mouse Model of SF3B4-Related Syndromes;2024-01-30

2. SF3B4 downregulation restrains lung adenocarcinoma tumorigenesis via 5′ alternative splicing of KAT2A;Scientific Reports;2024-01-02

3. Children with Rare Nager Syndrome—Literature Review, Clinical and Physiotherapeutic Management;Genes;2023-12-24

4. Sf3b4 regulates chromatin remodeler splicing and Hox expression;Differentiation;2023-05

5. SF3B4 Depletion Retards the Growth of A549 Non-Small Cell Lung Cancer Cells via UBE4B-Mediated Regulation of p53/p21 and p27 Expression;Molecules and Cells;2022-08-23