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

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Last updated 22 dezembro 2024

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

A Case of Rubinstein-Taybi Syndrome with Tetralogy of Fallot

An unusual presentation of Rubinstein-Taybi Syndrome with bilateral postaxial polydactyly

Frontiers Behavioral and neuropsychiatric challenges across the lifespan in individuals with Rubinstein-Taybi syndrome

Mosaic CREBBP mutation causes overlapping clinical features of Rubinstein– Taybi and Filippi syndromes

PDF] Rubinstein-Taybi Syndrome in a 19-years old boy.

PDF) A novel EP300 mutation associated with Rubinstein-Taybi syndrome type 2 presenting as combined immunodeficiency

Congenital glaucoma as a presenting feature of Rubinstein-Taybi syndrome in an infant with a novel pathogenic variant in the CREBBP gene

PDF) Rubinstein-Taybi syndrome: Clinical profile of 11 patients and review of literature

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

Rubinstein‐Taybi syndrome in Chinese population with four novel mutations - Yu - 2021 - American Journal of Medical Genetics Part A - Wiley Online Library

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

Frontiers Behavioral and neuropsychiatric challenges across the lifespan in individuals with Rubinstein-Taybi syndrome

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

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