Rubinstein-Taybi Syndrome Latest Advances

Distinct Clinical Presentations of Menke-Hennekam Syndrome: Insights From CREBBP and EP300 Variants.

Journal: Journal of child neurology

Published: August 18, 2026

Severe Sepsis in an Adolescent With a De Novo Variant in the EP300 Gene Associated With Rubinstein-Taybi Syndrome Type 2: A Case Report.

Journal: Cureus

Published: July 05, 2026

Sudden Death of a Toddler With Rubinstein-Taybi Syndrome: Forensic Investigation and Pathophysiological Correlation.

Journal: Cureus

Published: June 24, 2026

Case Report: Sequential treatment of growth hormone deficiency and central precocious puberty in a girl with EP300-mutated Rubinstein-Taybi syndrome.

Journal: Frontiers in pediatrics

Published: May 18, 2026

Prenatal genotype-phenotype correlations in four fetuses with Rubinstein-Taybi syndrome due to EP300 mutations: a case series and literature review.

Journal: Frontiers in genetics

Published: April 28, 2026

Multifocal Neuroblastoma in Rubinstein-Taybi Syndrome Harboring a Novel CREBBP Variant Identified by Paired Whole Genome Sequencing.

Journal: Congenital anomalies

Published: April 13, 2026

Successful Treatment of Multirefractory Immune Thrombocytopenia in Rubinstein-Taybi Syndrome With Combined Rituximab and Eltrombopag.

Journal: Pediatric blood & cancer

Published: January 08, 2026

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

Gastrointestinal Manifestations in Rubinstein-Taybi Syndrome.

Journal: American journal of medical genetics. Part A

Published: December 12, 2025

First reported case of brachymetatarsia treated with a hexapod external fixator: a case report.

Journal: International journal of surgery case reports

Published: December 04, 2025

Decoding Multiple Keloids: A Gateway to Diagnosing Rubinstein-Taybi Syndrome.

Journal: Indian journal of dermatology

Published: November 20, 2025

Partnering With Physical Therapists and Speech-Language Pathologists in Early Childhood to Promote Access to Assistive Technology for a Child With Medical Complexity.

Journal: Journal of developmental and behavioral pediatrics : JDBP

Published: November 12, 2025

Rubinstein-Taybi Syndrome Latest Advances

Find the Latest Research About Rubinstein-Taybi Syndrome

Distinct Clinical Presentations of Menke-Hennekam Syndrome: Insights From CREBBP and EP300 Variants.

Distinct Clinical Presentations of Menke-Hennekam Syndrome: Insights From CREBBP and EP300 Variants.

Severe Sepsis in an Adolescent With a De Novo Variant in the EP300 Gene Associated With Rubinstein-Taybi Syndrome Type 2: A Case Report.

Severe Sepsis in an Adolescent With a De Novo Variant in the EP300 Gene Associated With Rubinstein-Taybi Syndrome Type 2: A Case Report.

Sudden Death of a Toddler With Rubinstein-Taybi Syndrome: Forensic Investigation and Pathophysiological Correlation.

Sudden Death of a Toddler With Rubinstein-Taybi Syndrome: Forensic Investigation and Pathophysiological Correlation.

Case Report: Sequential treatment of growth hormone deficiency and central precocious puberty in a girl with EP300-mutated Rubinstein-Taybi syndrome.

Case Report: Sequential treatment of growth hormone deficiency and central precocious puberty in a girl with EP300-mutated Rubinstein-Taybi syndrome.

Prenatal genotype-phenotype correlations in four fetuses with Rubinstein-Taybi syndrome due to EP300 mutations: a case series and literature review.

Prenatal genotype-phenotype correlations in four fetuses with Rubinstein-Taybi syndrome due to EP300 mutations: a case series and literature review.

Multifocal Neuroblastoma in Rubinstein-Taybi Syndrome Harboring a Novel CREBBP Variant Identified by Paired Whole Genome Sequencing.

Multifocal Neuroblastoma in Rubinstein-Taybi Syndrome Harboring a Novel CREBBP Variant Identified by Paired Whole Genome Sequencing.

Successful Treatment of Multirefractory Immune Thrombocytopenia in Rubinstein-Taybi Syndrome With Combined Rituximab and Eltrombopag.

Successful Treatment of Multirefractory Immune Thrombocytopenia in Rubinstein-Taybi Syndrome With Combined Rituximab and Eltrombopag.

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.

Gastrointestinal Manifestations in Rubinstein-Taybi Syndrome.

Gastrointestinal Manifestations in Rubinstein-Taybi Syndrome.

First reported case of brachymetatarsia treated with a hexapod external fixator: a case report.

First reported case of brachymetatarsia treated with a hexapod external fixator: a case report.

Decoding Multiple Keloids: A Gateway to Diagnosing Rubinstein-Taybi Syndrome.

Decoding Multiple Keloids: A Gateway to Diagnosing Rubinstein-Taybi Syndrome.

Partnering With Physical Therapists and Speech-Language Pathologists in Early Childhood to Promote Access to Assistive Technology for a Child With Medical Complexity.

Partnering With Physical Therapists and Speech-Language Pathologists in Early Childhood to Promote Access to Assistive Technology for a Child With Medical Complexity.