Publications by authors named "Manar A El-Serafy"
Mol Syndromol
December 2022
Article Synopsis
- Pathogenic variants in the PIEZO2 gene are linked to various syndromes, including Gordon syndrome, Marden-Walker syndrome, and distal arthrogryposis type 5, with Marden-Walker syndrome having a clearer phenotype compared to the others.
- A case study identified a patient with Marden-Walker syndrome and a novel PIEZO2 variant, along with another girl exhibiting Gordon syndrome, both showing brain anomalies like Dandy-Walker malformation through neuroimaging.
- The findings indicate that disorders related to PIEZO2 share overlapping traits, suggesting a continuum in their phenotypes, although the specific mechanisms of how PIEZO2 affects hindbrain development are still not fully understood.*
