TSC2 c.1864C > T Variant Aassociated with Mild Cases of Tuberous Sclerosis Complex

Laura S. Farach*, William T. Gibson, Steven P. Sparagana, Mark Nellist, Connie T. R. M. Stumpel, Marja Hietala, Elliott Friedman, Deborah A. Pearson, Susan P. Creighton, Annemiek Wagemans, Reveel Segel, Efrat Ben-Shalom, Kit Sing Au, Hope Northrup

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review

Original languageEnglish
Pages (from-to)771-775
Number of pages5
JournalAmerican Journal of Medical Genetics Part A
Volume173
Issue number3
DOIs
Publication statusPublished - Mar 2017

Keywords

  • tuberous sclerosis complex
  • genotype-phenotype association
  • rhabdomyoma
  • genetic counseling
  • TSC2
  • MUTATIONAL ANALYSIS
  • PHENOTYPE
  • GENOTYPE
  • SEVERITY
  • GENES

Cite this

Farach, L. S., Gibson, W. T., Sparagana, S. P., Nellist, M., Stumpel, C. T. R. M., Hietala, M., Friedman, E., Pearson, D. A., Creighton, S. P., Wagemans, A., Segel, R., Ben-Shalom, E., Au, K. S., & Northrup, H. (2017). TSC2 c.1864C > T Variant Aassociated with Mild Cases of Tuberous Sclerosis Complex. American Journal of Medical Genetics Part A, 173(3), 771-775. https://doi.org/10.1002/ajmg.a.38083