Targeted gene under study:
OMIM # 618798, ORPHA:684216
Abstract
As part of a project looking at growth pathologies and epigenetics, we want to produce a phenotypic and molecular description of patients (including episignature) carrying a pathological variant in the TET3 gene. Clinical data (especially growth and neurodevelopmental parameters) and a DNA aliquot (from blood) will be collected.
Coordinating team
Maud de Dieuleveult – maud.de-dieuleveult@inserm.fr
Valérie Cormier-Daire – Valerie.cormier-daire@inserm.fr
Institution
Institut Imagine INSERM U1163, Paris, France
Specific requirements beyond clinical data and genotype data sharing:
1- Re-analysis of DNA samples: Yes
2- Resampling of patients: No
3- Linked to a translational/basic research project: No