Publications by authors named "Gilles Eymard-Duvernay"
Intractable Rare Dis Res
May 2024
Article Synopsis
- The study reviewed publications on patients with gastrointestinal defects and immunodeficiency syndrome-1 (GIDID1) linked to TTC7A abnormalities, analyzing their health outcomes, treatment, and genetic factors.
- Findings revealed a high mortality rate of 65.8% among 83 patients, with an average age of death at about 11.8 months; three phenotypic groups were observed, each with varying mortality rates.
- Genotype associations were identified, particularly the NS/NS and MS/MS variants, linked to specific phenotypes, while limited effective treatments were noted, indicating a need for better therapeutic strategies.
