Genotype-phenotype correlations in Rubinstein-Taybi syndrome
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.32424/fullpdf
Reference19 articles.
1. Genetic heterogeneity in Rubinstein-Taybi syndrome: Delineation of the phenotype of the first patients carrying mutations in EP300;Bartholdi;J Med Genet,2007
2. Molecular studies in 10 cases of Rubinstein-Taybi syndrome, including a mild variant showing a missense mutation in codon 1175 of CREBBP;Bartsch;J Med Genet,2002
3. 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
4. Evidence for a new contiguous gene syndrome, the chromosome 16p13.3 deletion syndrome alias severe Rubinstein-Taybi syndrome;Bartsch;Hum Genet,2006
5. Rubinstein-Taybi syndrome: Spectrum of CREBBP mutations in Italian patients;Bentivegna;BMC Med Genet,2006
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2. Epigenetics in rare neurological diseases;Frontiers in Cell and Developmental Biology;2024-07-23
3. Diagnosis and management in Rubinstein-Taybi syndrome: first international consensus statement;Journal of Medical Genetics;2024-03-12
4. Molecular insight into CREBBP and TANGO2 variants causing intellectual disability;The Journal of Gene Medicine;2023-09-18
5. Exploring genotype–phenotype correlations in CREBBP: comment on the literature and description of an additional patient with an atypical outcome;European Journal of Human Genetics;2023-05-29
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