Glossal hamartoma in tuberous sclerosis

Tuberous sclerosis is a genetic disease caused by mutations in the tumour suppressor genes TSC1 and TSC2. 1 The protein products of TSC1 and TSC2 (hamartin and tuberin) have an inhibitory effect on the mammalian target of rapamycin, a protein kinase that influences cell growth and proliferation.

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Bibliographische Detailangaben
Veröffentlicht in:	Archives of disease in childhood 2013-02, Vol.98 (2), p.161-161
Hauptverfasser:	Amin, Sam, O'Callaghan, Finbar J K
Format:	Artikel
Sprache:	eng
Schlagworte:	Adolescent Biological and medical sciences Care and treatment Case studies Cell growth Diagnosis General aspects Genetic Disorders Hamartoma - complications Hamartoma - pathology Humans Kinases Literary Devices Medical sciences Miscellaneous Mutation Neurology Paediatric Practice Patients Prevention and actions Public health. Hygiene Public health. Hygiene-occupational medicine Tongue Diseases - complications Tongue Diseases - pathology Tuberous sclerosis Tuberous Sclerosis - complications Tuberous Sclerosis - diagnosis Tumors of the nervous system. Phacomatoses
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Beschreibung
Zusammenfassung:	Tuberous sclerosis is a genetic disease caused by mutations in the tumour suppressor genes TSC1 and TSC2. 1 The protein products of TSC1 and TSC2 (hamartin and tuberin) have an inhibitory effect on the mammalian target of rapamycin, a protein kinase that influences cell growth and proliferation.
ISSN:	0003-9888 1468-2044
DOI:	10.1136/archdischild-2012-303036