SPRED1 germline mutations caused a neurofibromatosis type 1 overlapping phenotype
Résumé
Germline loss-of-function mutations in the gene have recently been identified in patients fulfilling the National Institutes of Health (NIH) diagnostic criteria for neurofibromatosis type 1 (NF1) but with no (neurofibromin 1) mutation found, suggesting a neurofibromatosis type 1-like syndrome.
Origine : Fichiers produits par l'(les) auteur(s)
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