This article presents the case of an 8-year-old boy with a 1801A>G mutation who has five facial features of tuberous sclerosis complex.

Download full-text PDF

Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3399647PMC
http://dx.doi.org/10.1634/theoncologist.2011-0407DOI Listing

Publication Analysis

Top Keywords

facial features
8
features tuberous
8
tuberous sclerosis
8
constellation facial
4
sclerosis child
4
child tsc2
4
tsc2 1808a>g
4
1808a>g mutation
4
mutation article
4
article presents
4

Similar Publications

Want AI Summaries of new PubMed Abstracts delivered to your In-box?

Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!