First case of Rubinstein–Taybi syndrome with desquamation associated with a novel mutation in the bromodomain of the CREBBP gene
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DOI: 10.1111/ced.13871
Abstract: Rubinstein–Taybi syndrome (RSTS) is a rare congenital disorder, mainly characterized by postnatal growth retardation, intellectual disability, and facial and limb abnormalities. Although not considered as characteristic manifestations, numerous cutaneous anomalies have also been reported in… read more here.
Keywords: bromodomain crebbp; novel mutation; rubinstein taybi; mutation bromodomain ... See more keywords