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

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 addition,...

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Detalles Bibliográficos
Autores principales: Mongrain, Valérie, van Doesburg, Nicolaas H., Rypens, Françoise, Fallet-Bianco, Catherine, Maassen, Justine, Dufort-Gervais, Julien, Côté, Lucie, Major, Philippe
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7460776/
https://www.ncbi.nlm.nih.gov/pubmed/32873234
http://dx.doi.org/10.1186/s12883-020-01905-y

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7460776/
https://www.ncbi.nlm.nih.gov/pubmed/32873234
http://dx.doi.org/10.1186/s12883-020-01905-y

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