Rubinstein-Taybi syndrome: MedlinePlus Genetics
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Descrição
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.
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Key Facts
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Facial dysmorphism, skeletal anomalies, congenital glucoma
Genes, Free Full-Text
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