Rubinstein-Taybi Syndrome in a Fetus: Contribution of 2- and 3-Dimensional Ultrasonography
Author:
Affiliation:
1. Department of Gynecology and Obstetrics
2. Department of Clinical Genetics
3. Department of Fetopathology; CHU de Nantes; Nantes Cedex France
Publisher
Wiley
Subject
Radiology Nuclear Medicine and imaging,Radiological and Ultrasound Technology
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1002/jum.14342/fullpdf
Reference7 articles.
1. Rubinstein-Taybi syndrome;Hennekam;Eur J Hum Genet,2006
2. Rubinstein-Taybi syndrome: clinical features, genetic basis, diagnosis, and management;Milani;Ital J Pediatr,2015
3. Tumors in Rubinstein-Taybi syndrome;Miller;Am J Med Genet,1995
4. Phenotype and genotype in 52 patients with Rubinstein-Taybi syndrome caused by EP300 mutations;Fergelot;Am J Med Genet,2016
5. Prenatal sonographic diagnosis of Rubinstein-Taybi syndrome;Greco;J Ultrasound Med,2009
Cited by 4 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. Diagnosis and management in Rubinstein-Taybi syndrome: first international consensus statement;Journal of Medical Genetics;2024-03-12
2. Rubinstein-Taybi Syndrome: A Model of Epigenetic Disorder;Genes;2021-06-24
3. Ultrasound 2-D and 3-D diagnosis of Rubinstein–Taybi syndrome in a 21-week-old fetus;Journal of Ultrasound;2020-06-18
4. Fetal phenotype of Rubinstein‐Taybi syndrome caused by CREBBP mutations;Clinical Genetics;2019-01-11
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