Otopalatodigital Syndrome Type 1 Latest Advances

Find the Latest Research About Otopalatodigital Syndrome Type 1

Last Updated: 06/30/2026

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Found 26 publications

Mutations in KAT3 family of lysine acetyl transferases impair neural crest migration in Rubinstein Taybi syndrome models.

Mutations in KAT3 family of lysine acetyl transferases impair neural crest migration in Rubinstein Taybi syndrome models.

Journal: Developmental dynamics : an official publication of the American Association of Anatomists

Published: December 29, 2025

Anaesthetic Management of a patient with Rubinstein Taybi Syndrome.

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.

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].

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

Generation of an induced pluripotent stem cell line IGIBi18-A from an Indian patient with Rubinstein Taybi Syndrome.

Generation of an induced pluripotent stem cell line IGIBi18-A from an Indian patient with Rubinstein Taybi Syndrome.

Journal: Stem cell research

Published: March 13, 2024

A Case of Common Variable Immunodeficiency with CREBP Gene Mutation without Rubinstein Taybi Syndrome Features.

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.

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.

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.

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.

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.

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.

Rubinstein Taybi Syndrome in an Indian Child due to EP300 Gene Mutation: Correspondence.

Journal: Indian journal of pediatrics

Published: September 02, 2016

Showing 1-12 of 26

Last Updated: 06/30/2026