Comprehensive Genetic Analysis Results of TSC1/TSC2 Genes in Patients with Clinical Suspicion of Tuberous Sclerosis Complex and Definition of 3 Novel Variants

BACKGROUND: Tuberous Sclerosis Complex is an autosomal dominant multi-system disorder with an incidence of about 1 in 6000 live births. Defects in either TSC1 (* 605284) or TSC2 (* 191092) genes encoding the components of the Tuberous Sclerosis Complex are responsible for the disease. Therefore, con...

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Detalles Bibliográficos
Autores principales: Demir, Selma, Yalçıntepe, Sinem, Atlı, Engin, Yalçın, Yelda, İkbal Atlı, Emine, Eker, Damla, Karal, Yasemin, Gürkan, Hakan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Trakya University School of Medicine 2021
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8880961/
https://www.ncbi.nlm.nih.gov/pubmed/34860161
http://dx.doi.org/10.5152/balkanmedj.2021.21092

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8880961/
https://www.ncbi.nlm.nih.gov/pubmed/34860161
http://dx.doi.org/10.5152/balkanmedj.2021.21092

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