Rubinstein- Taybi Syndrome Congenital Hand and Arm Differences
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Descrição
Rubinstein- Taybi syndrome is a rare disease related to a gene defect causing a protein abnormality. Most cases are sporadic without other known affected family members. One of the tell…
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PDF) Rubinstein-Taybi syndrome: Clinical features, genetic basis
Mosaic CREBBP mutation causes overlapping clinical features of
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