Neurofibromatosis type 2 in an infant presenting with visual impairment confirmed by genetic mutation analysis.
Kim
Judy E
JE
Department of Ophthalmology, Medical College of Wisconsin, Milwaukee, Wisconsin 53226, USA. judykim@mcw.edu
Ruttum
Mark S
MS
D002892:Chromosomes, Human, Pair 22 / Q000235:genetics; D004252:DNA Mutational Analysis; D005091:Exons / Q000235:genetics; D005451:Fluorescein Angiography; D016515:Genes, Neurofibromatosis 2; D006801:Humans; D007223:Infant; D008297:Male; D016518:Neurofibromatosis 2 / Q000235:genetics*; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D014786:Vision Disorders / Q000235:genetics*