Publications by authors named "Gwenal Le Guyader"
Am J Med Genet A
May 2023
Article Synopsis
- Exome sequencing is highlighted as a valuable resource in both prenatal and postnatal genetics, particularly for finding new candidate genes essential to human development.
- The study discusses seven unpublished cases of individuals with rare genetic variants related to recessive diseases involving the TBC1D32 gene, including both fetal and pediatric patients.
- TBC1D32 plays a role in cilia development and function, and the researchers present new data on its associated severe prenatal phenotypes linked to significant congenital abnormalities.
