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Targeted gene under study
SLC19A1, OMIM # 601775
Abstract
We identified a patient with two heterozygous variants in SLC19A1. This gene has recently been implicated in two case reports of pancytopenia with megaloblastic anemia and neurodevelopmental disorders (NIM # 601775). We are looking for other patients for collaboration and publication.
Coordinating clinicians/researchers
Henri Margot – henri.margot@chu-bordeaux.fr
Claire Beneteau – claire.beneteau@chu-bordeaux.fr
Institution
Service de Génétique Médicale, CHU de Bordeaux, Bordeaux, FRANCE
Specific requirements beyond clinical data and genotype data sharing:
- Re-analysis of DNA samples: No
- Resampling of patients: Functional studies to discuss
- Linked to a translational/basic research project: No