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Updated: Jan 31, 2026

Measuring Endoreduplication by Flow Cytometry of Isolated Tuber Protoplasts
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Tuberous Sclerosis.

Stephen H Tsang1,2, Tarun Sharma3

  • 1Jonas Children's Vision Care, Bernard & Shirlee Brown Glaucoma Laboratory, Columbia Stem Cell Initiative-Departments of Ophthalmology, Biomedical Engineering, Pathology & Cell Biology, Institute of Human Nutrition, Vagelos College of Physicians and Surgeons, Columbia University, New York, NY, USA.

Advances in Experimental Medicine and Biology
|December 23, 2018
PubMed
Summary
This summary is machine-generated.

Tuberous sclerosis, a genetic disorder, presents with seizures, intellectual disability, and skin growths. This classic triad is observed in approximately 30% of individuals diagnosed with the condition.

Keywords:
PhakomatosesTuberous sclerosis

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Area of Science:

  • Neurology
  • Genetics
  • Dermatology

Background:

  • Tuberous sclerosis is a rare genetic disorder.
  • It affects multiple organ systems.
  • Characterized by benign tumor formation.

Purpose of the Study:

  • To outline the key clinical features of tuberous sclerosis.
  • To highlight the prevalence of the classic triad in patients.

Main Methods:

  • Review of existing literature.
  • Analysis of patient case studies.

Main Results:

  • The classic triad includes seizures, mental retardation, and cutaneous angiofibromas.
  • This triad is present in about 30% of tuberous sclerosis cases.

Conclusions:

  • The classic triad is a significant indicator of tuberous sclerosis.
  • Early recognition aids in timely diagnosis and management.