Tatton-Brown-Rahman syndrome due to 2p23 microdeletion
Author:
Affiliation:
1. Department of Medical Genetics; Osaka Medical Center and Research Institute for Maternal and Child Health; Osaka Japan
2. Toribe Clinic; Toyonaka Japan
3. Tokyo Women's Medical University Institute for Integrated Medical Sciences; Tokyo Japan
Funder
Ministry of Health, Labour, and Welfare in Japan
Japan Agency for Medical Research and Development, AMED
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Reference8 articles.
1. Further phenotype description, genotype characterization in patients with de novo interstitial deletion on 2p23.2-24.1;Bloch;Am J Med Genet Part A,2014
2. DNA methyltransferases Dnmt3a and Dnmt3b are essentialfor de novo methylation and mammalian development;Okano;Cell,1999
3. Proximal interstitial 1p36 deletion syndrome: The most proximal 3.5-Mb microdeletion identified on a dysmorphic and mentally retarded patient with inv(3)(p14.1q26.2);Shimojima;Brain Dev,2009
4. Molecular cytogenetic characterization of 2p23.2p23.3 deletion in a child with developmental delay, hypotonia, and cryptorchism;Rocca;Eur J Med Genet,2013
5. A de novo interstitial deletion of 2p23.3-24.3 in a boy presenting with intellectual disability, overgrowth, dysmorphic features, skeletal myopathy, dilated cardiomyopathy;Shoukier;Am J Med Genet Part A,2012
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1. Expanding the genetic and clinical spectrum of Tatton-Brown-Rahman syndrome in a series of 24 French patients;Journal of Medical Genetics;2024-06-27
2. A novel pathogenic variant of DNMT3A associated with craniosynostosis: a case report of Heyn–Sproul–Jackson syndrome;Frontiers in Pediatrics;2023-05-25
3. Síndrome de Tatton-Brown-Rahman: Reporte de caso de variante en el gen DNTM3A no descrita previamente asociada al síndrome;Andes Pediatrica;2022-08-18
4. Further definition of the proximal 19p13.3 microdeletion/microduplication syndrome and implication of PIAS4 as the major contributor;Clinical Genetics;2020-01-23
5. Tatton‐Brown‐Rahman syndrome: Six individuals with novel features;American Journal of Medical Genetics Part A;2020-01-21
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