What Is Rubinstein-Taybi Syndrome? - StoryMD

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 and molecular overview, Expert Reviews in Molecular Medicine

Pfeiffer Syndrome - StoryMD

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

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

Noonan Syndrome with Multiple Lentigines - StoryMD

Mosaic CREBBP mutation causes overlapping clinical features of Rubinstein– Taybi and Filippi syndromes

Pfeiffer Syndrome - StoryMD