Two novel TSC2 mutations in pediatric patients with tuberous sclerosis complex: Case report

RATIONALE: Tuberous sclerosis complex (TSC) is a rare autosomal dominant disorder. The TSC1 and TSC2 genes have been identified as pathogenic genes. PATIENT CONCERNS: In this report, we are discussing a novel frameshift mutation and a novel missense mutation in the TSC2 gene. DIAGNOSES: The two case...

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Detalles Bibliográficos
Autores principales: Gao, Shan, Wang, Zhiling, Xie, Yongmei
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer Health 2018
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6086505/
https://www.ncbi.nlm.nih.gov/pubmed/30024541
http://dx.doi.org/10.1097/MD.0000000000011533

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6086505/
https://www.ncbi.nlm.nih.gov/pubmed/30024541
http://dx.doi.org/10.1097/MD.0000000000011533

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