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Molecular studies in 10 cases of Rubinstein-Taybi syndrome

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Last updated 22 março 2025

Molecular studies in 10 cases of Rubinstein-Taybi syndrome

Ocular symptoms in patients with Rubinstein-Taybi syndrome; 117 out of

Rubinstein-Taybi Syndrome

Dysmorphic and skeletal features of Rubinstein‐Taybi syndrome patients.

Psychiatric Profile in Rubinstein-Taybi Syndrome

High frequency of copy number imbalances in Rubinstein–Taybi patients negative to CREBBP mutational analysis

Psychiatric Profile in Rubinstein-Taybi Syndrome

Rubinstein-Taybi syndrome in a Saudi boy with distinct features and variants in both the CREBBP and EP300 genes: a case report, BMC Medical Genetics

Prevalence of Immunological Defects in a Cohort of 97 Rubinstein–Taybi Syndrome Patients

Ocular features in Rubinstein-Taybi syndrome: investigation of 24 patients and review of the literature

Rubinstein–Taybi Syndrome in a Filipino Infant with a Novel CREBBP Gene Pathogenic Variant

Rubinstein–Taybi syndrome: clinical and molecular overview, Expert Reviews in Molecular Medicine

IJMS, Free Full-Text

A case of bilateral elbow dislocation in a patient with Rubinstein-Taybi syndrome - JSES International

Frontiers Genetic Diagnosis of Rubinstein–Taybi Syndrome With Multiplex Ligation-Dependent Probe Amplification (MLPA) and Whole-Exome Sequencing (WES): Case Series With a Novel CREBBP Variant

Rubinstein-Taybi syndrome: clinical features, genetic basis, diagnosis, and management, Italian Journal of Pediatrics

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