- Tytuł:
- Clinical and genetic analysis of patients with segmental overgrowth features and somatic mammalian target of rapamycin (mTOR) pathway disruption: Possible novel clinical issues.
- Autorzy:
- Źródło:
- Birth defects research [Birth Defects Res] 2022 Dec 01; Vol. 114 (20), pp. 1440-1448. Date of Electronic Publication: 2022 Nov 08.
- Typ publikacji:
- Case Reports; Research Support, Non-U.S. Gov't
- MeSH Terms:
-
Phosphatidylinositol 3-Kinases */geneticsPhosphatidylinositol 3-Kinases */metabolism
TOR Serine-Threonine Kinases*/genetics
TOR Serine-Threonine Kinases*/metabolism
Humans ; Class IPhosphatidylinositol 3-Kinases /genetics ; Class IPhosphatidylinositol 3-Kinases /metabolism ; Genetic Testing ; Mutation ; Syndrome
Raport