Low‐level mosaicism in tuberous sclerosis complex in four unrelated patients: Comparison of clinical characteristics and diagnostic pathways

Tuberous sclerosis complex (TSC) is an autosomal dominant neurocutaneous syndrome caused by either TSC1 or TSC2 gene mutations. About 15% of TSC patients remain without genetic diagnosis by conventional analysis despite clinical evidence. It is important to identify somatic mosaics, as therapeutic o...

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Detalles Bibliográficos
Autores principales: Manzanilla‐Romero, Héctor Hugo, Weis, Denisa, Schnaiter, Simon, Rudnik‐Schöneborn, Sabine
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2021
Materias:
Regular Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9291125/
https://www.ncbi.nlm.nih.gov/pubmed/34328706
http://dx.doi.org/10.1002/ajmg.a.62433

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9291125/
https://www.ncbi.nlm.nih.gov/pubmed/34328706
http://dx.doi.org/10.1002/ajmg.a.62433

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