Constellation of Five Facial Features of Tuberous Sclerosis in a Child with a TSC2 1808A>G Mutation

This article presents the case of an 8-year-old boy with a TSC2 1801A>G mutation who has five facial features of tuberous sclerosis complex.

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Detalhes bibliográficos
Main Authors: Hardy, Rachel, Shepherd, Charles W., Donnelly, Deirdre E., McKee, Shane A., Morrison, Patrick J.
Formato: Artigo
Idioma:Inglês
Publicado em: AlphaMed Press 2012
Assuntos:
Clinical Genetics and Genetic Counseling
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3399647/
https://ncbi.nlm.nih.gov/pubmed/22707510
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1634/theoncologist.2011-0407
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