02379nam 2200553 a 450 991087781620332120200520144314.03-527-64467-91-283-14044-697866131404493-527-63007-43-527-63008-2(CKB)2670000000019017(EBL)530455(SSID)ssj0000430139(PQKBManifestationID)11965379(PQKBTitleCode)TC0000430139(PQKBWorkID)10453602(PQKB)10919303(MiAaPQ)EBC530455(OCoLC)644165307(EXLCZ)99267000000001901720100612d2010 uy 0engur|n|---|||||txtccrTuberous sclerosis complex genes, clinical features and therapeutics /edited by David J. Kwiatkowski, Vicky Holets Whittemore, and Elizabeth A. ThieleWeinheim Wiley-Blackwell20101 online resource (433 p.)Description based upon print version of record.3-527-32201-9 Includes bibliographical references and index.pt. 1. Basics -- pt. 2. Genetics -- pt. 3. Basic sciences -- pt. 4. Brain involvement -- pt. 5. Other organ systems -- pt. 6. Family impact.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.Tuberous sclerosisTuberous sclerosis.616.8Kwiatkowski David J1751318Whittemore Vicky Holets1751319Thiele Elizabeth A1751320MiAaPQMiAaPQMiAaPQBOOK9910877816203321Tuberous sclerosis complex4186221UNINA