Genetic Severity Score predicts clinical phenotype in NF2

Author:

Halliday Dorothy,Emmanouil Beatrice,Pretorius Pieter,MacKeith Samuel,Painter Sally,Tomkins Helen,Evans D GarethORCID,Parry Allyson

Publisher

BMJ

Subject

Genetics (clinical),Genetics

Reference38 articles.

1. Birth incidence and prevalence of tumor-prone syndromes: estimates from a UK family genetic register service;Evans;Am J Med Genet A,2010

2. Alteration in a new gene encoding a putative membrane-organizing protein causes neuro-fibromatosis type 2;Rouleau;Nature,1993

3. Misleading linkage results in an NF2 presymptomatic test owing to mosaicism;Bijlsma;J Med Genet,1997

4. Mosaicism in sporadic neurofibromatosis 2 patients;Kluwe;Hum Mol Genet,1998

5. Somatic mosaicism: a common cause of classic disease in tumor-prone syndromes? Lessons from type 2 neurofibromatosis;Evans;Am J Hum Genet,1998

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