Rubinstein-Taybi syndrome: MedlinePlus Genetics
Por um escritor misterioso
Last updated 19 março 2025

Rubinstein-Taybi syndrome is a condition characterized by short stature, moderate to severe intellectual disability, distinctive facial features, and broad thumbs and first toes . Explore symptoms, inheritance, genetics of this condition.

Genetic Heterogeneity in Rubinstein-Taybi Syndrome: Mutations in

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Analysis of mutations within the intron20 splice donor site of

Rubinstein–Taybi syndrome - Wikipedia

CREBBP mutations in individuals without Rubinstein–Taybi syndrome

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Chromosome 16p13.3 Deletion Syndrome, Proximal disease: Malacards

BJORL - Brazilian Journal of Otorhinolaryngology

Exon deletions of the EP300 and CREBBP genes in two children with
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