What Is Rubinstein-Taybi Syndrome? - StoryMD
Por um escritor misterioso
Last updated 22 dezembro 2024
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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Rubinstein-Taybi syndrome: clinical features, genetic basis, diagnosis, and management, Italian Journal of Pediatrics
A case with Rubinstein-Taybi syndrome: A novel frameshift mutation in the CREBBP gene.
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High frequency of copy number imbalances in Rubinstein–Taybi patients negative to CREBBP mutational analysis
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What Is the Long-Term Outlook for People with Rubinstein-Taybi Syndrome? - StoryMD
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PDF] Rubinstein-Taybi Syndrome: A Case Report
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DBMCI MDS (Formerly MDS Experts) on Instagram: RUBINSTEIN TAYBI SYNDROME An autosomal dominant disease associated with deletions of the short arm of ch 16. Clinical Features: • Mental retardation • Broad thumbs •
Patient Stories Rubinstein-Taybi Syndrome
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