Rubinstein-Taybi Syndrome: A Complete Overview — DermNet

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Last updated 02 abril 2025

Rubinstein-Taybi Syndrome: A Complete Overview — DermNet

Rubinstein-Taybi syndrome (RTS), or broad thumb-hallux syndrome, is a rare genetic condition with a broad phenotypic spectrum that ranges from mild to severe abnormal morphology.

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: MedlinePlus Genetics

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PDF) Rubinstein-Taybi Syndrome: A Case Report

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First case of Rubinstein–Taybi syndrome with desquamation associated with a novel mutation in the bromodomain of the CREBBP gene - Wang - 2019 - Clinical and Experimental Dermatology - Wiley Online Library

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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

Forgotten Diseases Research Foundation

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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

JCM, Free Full-Text

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