Associated Papers
Rubinstein-Taybi Syndrome: A Model of Epigenetic Disorder.
Van Gils J et al.
Genes, 2021
34202860 (PubMed )
Supplement: genes-12-00968-s001.zip › genes-1248377-supplementary.pdf
PEDIA: prioritization of exome data by image analysis.
Hsieh TC et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
31164752 (PubMed )
Supplement: 41436_2019_566_MOESM2_ESM.xlsx › Sheet1
Benign and malignant tumors in Rubinstein-Taybi syndrome.
Boot MV et al.
American Journal of Medical Genetics. Part A, 2018
Rubinstein-Taybi syndrome with multiple pilomatricomas: The first case diagnosed by CREBBP mutation analysis.
Rokunohe D et al.
Journal of Dermatological Science, 2016
Whole exome sequencing for a patient with Rubinstein-Taybi syndrome reveals de novo variants besides an overt CREBBP mutation.
Yoo HJ et al.
International Journal of Molecular Sciences, 2015
25768348 (PubMed )
Supplement: ijms-16-05697-s001.pdf
Rubinstein-Taybi syndrome: clinical and molecular overview.
Roelfsema JH et al.
Expert Reviews in Molecular Medicine, 2007
Aberrant forms of histone acetyltransferases in human disease.
Van Beekum O et al.
Sub-cellular Biochemistry, 2007
Molecular analysis of the CBP gene in 60 patients with Rubinstein-Taybi syndrome.
Coupry I et al.
Journal of Medical Genetics, 2002
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