Germ-line NF2 mutations and disease severity in neurofibromatosis type 2 patients with retinal abnormalities.

Baser, M E

Germ-line NF2 mutations and disease severity in neurofibromatosis type 2 patients with retinal abnormalities. [electronic resource] - American journal of human genetics Apr 1999 - 1230-3 p. digital

Publication Type: Letter; Research Support, Non-U.S. Gov't

0002-9297

10.1086/302338 doi


Adolescent
Adult
Exons--genetics
Genes, Neurofibromatosis 2
Genetic Variation--genetics
Genotype
Germ-Line Mutation--genetics
Hamartoma--genetics
Humans
Male
Neurofibromatosis 2--genetics
Phenotype
Retina--abnormalities