Two different genetic etiologies for tuberous sclerosis complex (TSC) in a single family

BACKGROUND: Tuberous sclerosis complex (TSC) is an autosomal dominant genetic condition that involves abnormalities of the skin, hamartomas in the heart, brain, and kidneys, seizures, as well as TSC‐associated neuropsychiatric disorders (TAND). About 90%–95% of individuals with TSC will have an iden...

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Detalles Bibliográficos
Autores principales: Mowrey, Kate, Koenig, Mary Kay, Szabo, Charles A., Samuels, Joshua, Mulligan, Shannon, Pearson, Deborah A., Northrup, Hope
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2020
Materias:
Clinical Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7336739/
https://www.ncbi.nlm.nih.gov/pubmed/32383331
http://dx.doi.org/10.1002/mgg3.1296

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7336739/
https://www.ncbi.nlm.nih.gov/pubmed/32383331
http://dx.doi.org/10.1002/mgg3.1296

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