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Last Updated: 10/31/2025
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Found 25 publications
Anaesthetic Management of a patient with Rubinstein Taybi Syndrome.
Journal: Irish medical journal
Published: March 26, 2025
Rubinstein Taybi syndrome caused by EP300 gene mutation: what we learned from two cases and literature review.
Journal: Frontiers in genetics
Published: March 06, 2025
Corrigendum to "Generation of an induced pluripotent stem cell line IGIBi18-A from an Indian patient with rubinstein taybi syndrome" [Stem Cell Res. 78 (2024) 103456].
Journal: Stem cell research
Published: August 23, 2024
A Case of Common Variable Immunodeficiency with CREBP Gene Mutation without Rubinstein Taybi Syndrome Features.
Journal: Case reports in immunology
Published: April 12, 2022
Clinical description and mutational profile of a Moroccan series of patients with Rubinstein Taybi syndrome.
Journal: African health sciences
Published: November 19, 2021
Secondary hemophagocytic lymphohystiocytosis in a Rubinstein Taybi syndrome patient.
Journal: Pediatric hematology and oncology
Published: May 21, 2021
Otopalatodigital syndrome type I: New temporal bone CT-scan sign in a case with a de novo novel mutation.
Journal: Acta otorrinolaringologica espanola
Published: May 04, 2018
Chemical and genetic rescue of an ep300 knockdown model for Rubinstein Taybi Syndrome in zebrafish.
Journal: Biochimica et biophysica acta. Molecular basis of disease
Published: September 08, 2017
Clinical Experience of Treatment of Facial Malformations in Oto-Palato-Digital Syndrome: A Familial Patient.
Journal: The Journal of craniofacial surgery
Published: May 25, 2017
Rubinstein Taybi Syndrome in an Indian Child due to EP300 Gene Mutation: Correspondence.
Journal: Indian journal of pediatrics
Published: September 02, 2016
Last Updated: 10/31/2025