What Is Rubinstein-Taybi Syndrome? - StoryMD
Por um escritor misterioso
Last updated 01 abril 2025

Rubinstein-Taybi syndrome (RTS) is a syndrome characterized by broad thumbs and toes, short stature, distinctive facial features, and varying degrees of intellectual disability. The syndrome may be

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First case report of inherited Rubinstein-Taybi syndrome associated with a novel EP300 variant, BMC Medical Genetics

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

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