Neurofibromatosis type 1 families with first-degree relatives harbouring distinct NF1 pathogenic variants. Genetic counselling and familial diagnosis: what should be offered?
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DOI: 10.1136/jmedgenet-2021-108301
Abstract: Neurofibromatosis type 1 (NF1) is an autosomal dominant disorder caused by pathogenic variants in NF1. Recently, NF1 testing has been included as a clinical criterion for NF1 diagnosis. Additionally, preconception genetic counselling in patients with… read more here.
Keywords: pathogenic variants; nf1 pathogenic; diagnosis; genetic counselling ... See more keywords