Somatic and germ-line mosaicism in Rubinstein-Taybi syndrome
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.32948/fullpdf
Reference18 articles.
1. DNA sequencing of CREBBP demonstrates mutations in 56% of patients with Rubinstein-Taybi syndrome (RSTS) and in another patient with incomplete RSTS;Bartsch;Hum Genet,2005
2. Rubinstein-Taybi syndrome: Spectrum of CREBBP mutations in Italian patients;Bentivegna;BMC Med Genet,2006
3. Variation in microdeletions of the cyclic AMP-responsive element-binding protein gene at chromosome band 16p13.3 in the Rubinstein-Taybi syndrome;Blough;Am J Med Genet,2000
4. Rubinstein-Taybi syndrome caused by submicroscopic deletions within 16p13.3;Breuning;Am J Hum Genet,1993
5. Molecular analysis of the CBP gene in 60 patients with Rubinstein-Taybi syndrome;Coupry;J Med Genet,2002
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1. The Phenotype-Based Approach Can Solve Cold Cases: The Paradigm of Mosaic Mutations of the CREBBP Gene;Genes;2024-05-22
2. Diagnosis and management in Rubinstein-Taybi syndrome: first international consensus statement;Journal of Medical Genetics;2024-03-12
3. Molecular-genetic basis of Rubinstein–Taybi syndrome;Neuromuscular Diseases;2023-06-15
4. Correlations between phenotype and gene region-specific episignatures in Rubinstein-Taybi syndrome and Menke-Hennekam syndrome;2023-03-15
5. Sperm mosaicism: implications for genomic diversity and disease;Trends in Genetics;2021-10
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