E-resources
Peer reviewed
Open access
-
Caroleo, Anna Maria; Rotulo, Silvia; Agolini, Emanuele; Macchiaiolo, Marina; Boccuto, Luigi; Antonelli, Manila; Colafati, Giovanna Stefania; Cacchione, Antonella; Megaro, Giacomina; Carai, Andrea; De Ioris, Maria Antonietta; Lodi, Mariachiara; Tornesello, Assunta; Simone, Valeria; Torroni, Filippo; Cinalli, Giuseppe; Mastronuzzi, Angela
Frontiers in molecular neuroscience, 08/2023, Volume: 16Journal Article
Phosphatase and tensin homolog ( PTEN ) hamartoma tumor syndrome (PHTS) is a cancer predisposition syndrome characterized by an increased risk of developing benign and malignant tumors, caused by germline pathogenic variants of the PTEN tumour suppressor gene. PTEN gene variants often present in childhood with macrocephaly, developmental delay, and/or autism spectrum disorder while tumors and intestinal polyps are commonly detected in adults. PHTS is rarely associated with childhood brain tumors with only two reported cases of medulloblastoma (MB). We report the exceptional case of an infant carrying a germline and somatic pathogenic variant of PTEN and a germline and somatic pathogenic variant of CHEK2 who developed a MB SHH in addition to intestinal polyposis.
Author
Shelf entry
Permalink
- URL:
Impact factor
Access to the JCR database is permitted only to users from Slovenia. Your current IP address is not on the list of IP addresses with access permission, and authentication with the relevant AAI accout is required.
Year | Impact factor | Edition | Category | Classification | ||||
---|---|---|---|---|---|---|---|---|
JCR | SNIP | JCR | SNIP | JCR | SNIP | JCR | SNIP |
Select the library membership card:
If the library membership card is not in the list,
add a new one.
DRS, in which the journal is indexed
Database name | Field | Year |
---|
Links to authors' personal bibliographies | Links to information on researchers in the SICRIS system |
---|
Source: Personal bibliographies
and: SICRIS
The material is available in full text. If you wish to order the material anyway, click the Continue button.