Gene/phenotype/disorder under study
HIST1H1E (MIM# 617537)
Abstract
We are working on the development of a fundamental research project on the epigenetic and cellular impact of rare histone variants. An initial study concerns Rahman syndrome (HIST1H1E, MIM#617537). We would be interested in collecting clinical observations and proposing additional standard blood-based biological analyses for voluntary patients to whom you could offer participation.
At your disposal for any contact or further information.
Coordinating clinician
Julien Thevenon – JThevenon@chu-grenoble.fr
Institution
Grenoble University Hospital, France
Specific requirements beyond clinical data and genotype data sharing:
1- Re-analysis of DNA samples: No
2- Resampling of patients: Yes
3- Linked to a translational/basic research project: Yes