Trends in phenotype in the English paediatric Neurofibromatosis Type 2 cohort stratified by genetic severity.

In conclusion, group 3 phenotype manifests earlier with greater tumour load, poorer visual outcomes and more intervention.
PMID: 30993672 [PubMed - as supplied by publisher]

Source: Clinical Genetics - April 15, 2019 Category: Genetics & Stem Cells Authors: Halliday D, Emmanouil B, Vassallo G, Lascelles K, Nicholson J, Chandratre S, Anand G, Wasik M, Pretorius P, Evans DG, Parry A, English NF2 research group Tags: Clin Genet Source Type: research