Chapter 5. Genotype–Phenotype Studies in TSC and Molecular Diagnostics

  1. Dr. David J. Kwiatkowski2,
  2. Dr. Vicky Holets Whittemore3 and
  3. Dr. Elizabeth A. Thiele4
  1. Kit S. Au and
  2. Hope Northrup

Published Online: 9 JUN 2010

DOI: 10.1002/9783527630073.ch5

Tuberous Sclerosis Complex: Genes, Clinical Features and Therapeutics

Tuberous Sclerosis Complex: Genes, Clinical Features and Therapeutics

How to Cite

Au, K. S. and Northrup, H. (2010) Genotype–Phenotype Studies in TSC and Molecular Diagnostics, in Tuberous Sclerosis Complex: Genes, Clinical Features and Therapeutics (eds D. J. Kwiatkowski, V. H. Whittemore and E. A. Thiele), Wiley-VCH Verlag GmbH & Co. KGaA, Weinheim, Germany. doi: 10.1002/9783527630073.ch5

Editor Information

  1. 2

    Brigham & Women's Hospital, Dana Farber Cancer Institute, Harvard Medical School, 1 Blackfan Circle, Boston, MA 02115, USA

  2. 3

    Tuberous Sclerosis Alliance, 801 Roeder Road, Silver Spring, MD 20910, USA

  3. 4

    Carol & James Herscot Center For TCS, Massachusetts General Hospital, Department of Neurology, 175 Cambridge Street, Boston, MA 02114, USA

Author Information

  1. The University of Texas Medical School at Houston, Division of Medical Genetics, Department of Pediatrics, Houston, TX 77030, USA

Publication History

  1. Published Online: 9 JUN 2010
  2. Published Print: 21 APR 2010

ISBN Information

Print ISBN: 9783527322015

Online ISBN: 9783527630073

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Keywords:

  • hamartin;
  • heteroduplex analysis;
  • mosaicism;
  • mutation;
  • subependymal nodules;
  • tuberous sclerosis

Summary

This chapter contains sections titled:

  • Introduction

  • Comprehensive Genotype–Phenotype Reports

  • Genotype–Phenotype Correlation

  • Molecular Diagnostic Methods

  • Conclusion

  • References