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

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

Abstract Background Disease severity is tremendously variable in tuberous sclerosis complex (TSC). In contrast with the detailed guidelines available for TSC diagnosis and management, clinical practice lacks adequate tools to evaluate the prognosis, especially in the case of in utero diagnosis. In a...

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Bibliographic Details
Main Authors: Valérie Mongrain, Nicolaas H. van Doesburg, Françoise Rypens, Catherine Fallet-Bianco, Justine Maassen, Julien Dufort-Gervais, Lucie Côté, Philippe Major
Format: Article
Language:English
Published: BMC 2020-09-01
Series:BMC Neurology
Subjects:
Ultrasound
Magnetic resonance imaging (MRI)
Autopsy
Tuberous sclerosis complex 2 (TSC2)
TSC2 c.5169dupA
Case report
Online Access:http://link.springer.com/article/10.1186/s12883-020-01905-y

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http://link.springer.com/article/10.1186/s12883-020-01905-y

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