Publications by authors named "Marilza de Lima Santos"
Biallelic frameshift variant in the TBC1D2B gene in two siblings with progressive gingival overgrowth, fibrous dysplasia of face, and mental deterioration.
Gabriela Roldão Correia-Costa Nicole de Leeuw Rolph Pfundt Ilária Cristina Sgardioli Ana Paula Dos Santos Marilza de Lima Santos
Clin Genet
December 2022
Article Synopsis
- The TBC1D2B gene has been identified as a cause of a specific neurodevelopmental disorder that includes symptoms like seizures and enlarged gums.
- Two male siblings exhibited similar symptoms starting with gum overgrowth and soft tissue growth at age 3, later developing severe facial bone issues and neurological symptoms like mental decline and tremors.
- Genetic testing revealed a new harmful variant of the TBC1D2B gene in both siblings, with parents carrying a single copy, further confirming the link between this gene and their rare condition.