A case report of severe tuberous sclerosis complex detected in utero and linked to a novel duplication in the TSC2 gene.

Valérie MongrainNicolaas H van DoesburgFrançoise RypensCatherine Fallet-BiancoJustine MaassenJulien Dufort-GervaisLucie CôtéPhilippe Major

Published in: BMC neurology (2020)

This case presentation is the first to depict the association between a de novo TSC2 c.5169dupA and multi-organ manifestation together with indications of a particularly high disease severity. This report can help physicians to perform early clinical diagnosis of TSC and to evaluate the prognosis.

Keyphrases

primary care
genome wide
early onset
case report
gene expression
genome wide identification
drug induced