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Publications by Ana Maria Bravo Ferrer Acosta
Confirmation of EP300 Gene Mutations as a Rare Cause of Rubinstein–Taybi Syndrome
European Journal of Human Genetics
Genetics
Related publications
Genetic Heterogeneity in Rubinstein-Taybi Syndrome: Mutations in Both the CBP and EP300 Genes Cause Disease
American Journal of Human Genetics
Genetics
Rubinstein-Taybi Syndrome
First Case Report of Inherited Rubinstein-Taybi Syndrome Associated With a Novel EP300 Variant
BMC Medical Genetics
Genetics
Rubinstein-Taybi 2 Associated to Novel EP300 Mutations: Deepening the Clinical and Genetic Spectrum
BMC Medical Genetics
Genetics
Rubinstein–Taybi Syndrome: A Pediatric Case Report
Journal of Medicine, Radiology, Pathology and Surgery
Multiple Meningiomas in a Patient With Rubinstein—Taybi Syndrome
Journal of Neurosurgery
Surgery
Neurology
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
Activating Mutations of RRAS2 Are a Rare Cause of Noonan Syndrome
American Journal of Human Genetics
Genetics
Images in Anesthesia: Congenital Tracheal Stenosis in a Boy With Rubinstein-Taybi Syndrome
Canadian Journal of Anaesthesia
Medicine
Anesthesiology
Pain Medicine
