Our laboratory has just reported a very unusual and never described phenotype associated with a mutation of the GLE1 gene in a family. This work, broadening the clinical spectrum of diseases linked to GLE1 gene mutations, demonstrates the major importance of establishing regular multidisciplinary confrontations, particularly in the context of using high-throughput sequencing for diagnosis. This approach should aim to become a standard in current medical practice in the field of rare genetic diseases.
https://onlinelibrary.wiley.com/doi/full/10.1002/mgg3.1277