Neurofibromatosis type 2 French cohort analysis using a comprehensive NF2 molecular diagnostic strategy - Archive ouverte HAL Access content directly
Journal Articles Neurochirurgie Year : 2018

Neurofibromatosis type 2 French cohort analysis using a comprehensive NF2 molecular diagnostic strategy

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Abstract

Neurofibromatosis type 2 (NF2) affects about one in 25,000 to 40,000 people. Most NF2 patients have private loss-of-function mutations scattered along the NF2 gene. Here, we present our NF2 investigation strategy.
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Dates and versions

hal-03905475 , version 1 (18-12-2022)

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E. Pasmant, C. Louvrier, A. Luscan, J. Cohen, I. Laurendeau, et al.. Neurofibromatosis type 2 French cohort analysis using a comprehensive NF2 molecular diagnostic strategy. Neurochirurgie, 2018, 64 (5), pp.335-341. ⟨10.1016/j.neuchi.2015.01.004⟩. ⟨hal-03905475⟩
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