Somatic Mosaicism: A Common Cause of Classic Disease in Tumor-Prone Syndromes? Lessons from Type 2 Neurofibromatosis
- 1 September 1998
- journal article
- Published by Elsevier in American Journal of Human Genetics
- Vol. 63 (3) , 727-736
- https://doi.org/10.1086/512074
Abstract
No abstract availableKeywords
This publication has 15 references indexed in Scilit:
- Genotype/phenotype correlations in type 2 neurofibromatosis (NF2): evidence for more severe disease associated with truncating mutations.Journal of Medical Genetics, 1998
- Misleading linkage results in an NF2 presymptomatic test owing to mosaicism.Journal of Medical Genetics, 1997
- Renal Cystic Disease in Tuberous Sclerosis: Role of the Polycystic Kidney Disease 1 GeneAmerican Journal of Human Genetics, 1997
- Identification of NF2 germ-line mutations and comparison with neurofibromatosis 2 phenotypesHuman Genetics, 1996
- Analysis ofRET protooncogene point mutations distinguishes heritable from nonheritable medullary thyroid carcinomasCancer, 1995
- Somatic mosaicism for a DMD gene deletionAmerican Journal of Medical Genetics, 1995
- Neurofibromatosis 2 (NF2): Clinical characteristics of 63 affected individuals and clinical evidence for heterogeneityAmerican Journal of Medical Genetics, 1994
- What is segmental neurofibromatosis?British Journal of Dermatology, 1994
- A genetic study of type 2 neurofibromatosis in the United Kingdom. II. Guidelines for genetic counselling.Journal of Medical Genetics, 1992
- A second-generation linkage map of the human genomeNature, 1992