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Rubinstein-Taybi syndrome

Pronunciation: ru'bin-stin ta'be

Definition: mental retardation, broad thumb and great toe, antimongoloid slant to the eyes, thin and beaked nose, microcephaly, prominent forehead, low-set ears, high arched palate, and cardiac anomaly; a submicroscopic chromosomal defect may be causative, but evidence suggests that this syndrome is due to mutation in the gene encoding transcriptional coactivator CREB-binding protein on chromosome 16p.

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© Copyright 2017 Wolters Kluwer. All Rights Reserved. Review Date: Sep 19, 2016.
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