Open AccessConstellation of Five Facial Features of Tuberous Sclerosis in a Child with a TSC2 1808A>G Mutation
Author(s) -
Hardy Rachel,
Shepherd Charles W.,
Donnelly Deirdre E.,
McKee Shane A.,
Morrison Patrick J.
Publication year - 2012
Publication title -
the oncologist
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.176
H-Index - 164
eISSN - 1549-490X
pISSN - 1083-7159
DOI - 10.1634/theoncologist.2011-0407
Subject(s) - tuberous sclerosis , medicine , tsc2 , mutation , dermatology , genetics , pathology , pi3k/akt/mtor pathway , gene , biology , apoptosis
This article presents the case of an 8‐year‐old boy with a TSC2 1801A>G mutation who has five facial features of tuberous sclerosis complex.