1.

Record Nr.

UNINA9910831175603321

Titolo

Tuberous sclerosis complex [[electronic resource] ] : genes, clinical features and therapeutics / / edited by David J. Kwiatkowski, Vicky Holets Whittemore, and Elizabeth A. Thiele

Pubbl/distr/stampa

Weinheim, : Wiley-Blackwell, 2010

ISBN

3-527-64467-9

1-283-14044-6

9786613140449

3-527-63007-4

3-527-63008-2

Descrizione fisica

1 online resource (433 p.)

Altri autori (Persone)

KwiatkowskiDavid J

WhittemoreVicky Holets

ThieleElizabeth A

Disciplina

616.8

Soggetti

Tuberous sclerosis

Lingua di pubblicazione

Inglese

Formato

Materiale a stampa

Livello bibliografico

Monografia

Note generali

Description based upon print version of record.

Nota di bibliografia

Includes bibliographical references and index.

Nota di contenuto

pt. 1. Basics -- pt. 2. Genetics -- pt. 3. Basic sciences -- pt. 4. Brain involvement -- pt. 5. Other organ systems -- pt. 6. Family impact.

Sommario/riassunto

The only comprehensive overview of the molecular basis and clinical features of the genetic disorder tuberous sclerosis, which affects approximately 50,000 people in the US alone. Special focus is placed on novel insights into the signal transduction pathways affected by the disease as well as genotype phenotype correlations, while existing and potential therapies are also discussed in depth. The editors are leading experts in research and treatment of the disease as well as the Vice President of the Tuberous Sclerosis Alliance, the only voluntary health organization for TSC in the US.