Trends in phenotype in the English paediatric neurofibromatosis type 2 cohort stratified by genetic severity.
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.
Halliday D, et al.
Clin Genet. 2019 Aug;96(2):151-162. doi: 10.1111/cge.13551. Epub 2019 Apr 29.
Clin Genet. 2019.
PMID: 30993672
Mean age at last review was 13.9 years with mean follow-up 6.5 years. Patients were stratified using a validated score (1A/1B:no NF2 pathogenic_variant in blood; 2A/2B:mild/moderate NF2 constitutional or mosaic pathogenic_variant in blood; 3: constitutional truncating exon …
Mean age at last review was 13.9 years with mean follow-up 6.5 years. Patients were stratified using a validated score (1A/1B:no NF2 …