Eponyms related to genetic disorders associated with gingival enlargement; part I

Cowden syndrome is associated with loss-of-function mutations in PTEN, a tumor suppressor gene, leading to hyperactivity of the mTOR pathway. First reported by Jones et al, in 1977. First reported, by Rutherfurd in 1931. Costello syndrome: a Ras/mitogen activated protein kinase pathway syndrome (ras...

Ausführliche Beschreibung

Gespeichert in:

Bibliographische Detailangaben
Veröffentlicht in:	Nasza dermatologia online 2014-10, Vol.5 (4), p.439
Hauptverfasser:	Ahmad Al Aboud, Nora Mohammed Al-Aboud, Barnawi, Hanan, Ahlam Al Hakami
Format:	Artikel
Sprache:	eng
Schlagworte:	Congenital diseases Epilepsy Genetic disorders Intellectual disabilities Kinases Literature reviews Mutation
Online-Zugang:	Volltext
Tags:	Tag hinzufügen Keine Tags, Fügen Sie den ersten Tag hinzu!

Beschreibung
Zusammenfassung:	Cowden syndrome is associated with loss-of-function mutations in PTEN, a tumor suppressor gene, leading to hyperactivity of the mTOR pathway. First reported by Jones et al, in 1977. First reported, by Rutherfurd in 1931. Costello syndrome: a Ras/mitogen activated protein kinase pathway syndrome (rasopathy) resulting from HRAS germline mutations.
ISSN:	2081-9390
DOI:	10.7241/ourd.20144.114