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Rubinstein-Taybi syndrome
The broad thumb seen in Rubinstein-Taybi syndrome (RSTS-patient1)
Keywords: Autosomal dominant disorder, Broad first finger, Child, Hand, Male, Multiple congenital anomaly syndrome
What is Rubinstein-Taybi syndrome?
Rubinstein-Taybi syndrome (RTS) or broad thumb-hallux syndrome is a rare genetic condition usually caused by mutations of the CREBBP or EP300 genes.
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