Cargando…
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...
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: | |
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 |
Ejemplares similares
-
Expanding Our Knowledge of Menstrual Irregularities Reported by Females With Tuberous Sclerosis Complex
por: Mowrey, Kate, et al.
Publicado: (2022) -
Topical Rapamycin Therapy to Alleviate the Cutaneous Manifestations of Tuberous Sclerosis Complex: A Double-Blind, Randomized, Controlled Trial to Evaluate the Safety and Efficacy of Topically Applied Rapamycin
por: Koenig, Mary Kay, et al.
Publicado: (2012) -
Tuberous Sclerosis Complex Surveillance and Management: Recommendations of the 2012 International Tuberous Sclerosis Complex Consensus Conference
por: Krueger, Darcy A., et al.
Publicado: (2013) -
Molecular analysis of TSC1 and TSC2 genes and phenotypic correlations in Brazilian families with tuberous sclerosis
por: Rosset, Clévia, et al.
Publicado: (2017) -
The Neurodevelopmental Pathogenesis of Tuberous Sclerosis Complex (TSC)
por: Feliciano, David M.
Publicado: (2020)