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Publications by Paula Santibáñez
First Case Report of Inherited Rubinstein-Taybi Syndrome Associated With a Novel EP300 Variant
BMC Medical Genetics
Genetics
Related publications
Rubinstein–Taybi Syndrome: A Pediatric Case Report
Journal of Medicine, Radiology, Pathology and Surgery
Confirmation of EP300 Gene Mutations as a Rare Cause of Rubinstein–Taybi Syndrome
European Journal of Human Genetics
Genetics
Rubinstein-Taybi 2 Associated to Novel EP300 Mutations: Deepening the Clinical and Genetic Spectrum
BMC Medical Genetics
Genetics
Rubinstein-Taybi Syndrome
Genetic Heterogeneity in Rubinstein-Taybi Syndrome: Mutations in Both the CBP and EP300 Genes Cause Disease
American Journal of Human Genetics
Genetics
Correction of Thumb Angulations After Physiolysis of Delta Phalanges in a Child With Rubinstein–Taybi Syndrome: A Case Report
Case Reports in Plastic Surgery and Hand Surgery
Multiple Meningiomas in a Patient With Rubinstein—Taybi Syndrome
Journal of Neurosurgery
Surgery
Neurology
Chromosomal 16p Microdeletion in Rubinstein-Taybi Syndrome Detected by Oligonucleotide-Based Array Comparative Genomic Hybridization: A Case Report
Journal of Medical Case Reports
Medicine
Exome Sequencing Identification of EP300 Mutation in a Proband With Coloboma and Imperforate Anus: Possible Expansion of the Phenotypic Spectrum of Rubinstein-Taybi Syndrome
Molecular Syndromology
Genetics
