Article
The phakomatoses as paracrine growth disorders (paracinopathies).
Clinical genetics - 1 Feb 1990
Kousseff B G
Abstract excerpt
A microcomputer database management system retrieved all 170 probands with phakomatoses evaluated through the genetic clinics at the University of South Florida between January 2, 1982 and December 31, 1987. Neurofibromatosis (NF) was the diagnosis of 118 of them; 42 had other phakomatoses and 10 had transitional phenotypes difficult to classify. The analysis of the hamartomas of all probands indicated...
Topics
- Dysplastic Nevus Syndrome
- Growth Substances
- Hamartoma
- Humans
- Melanosis
- Mutation
- Neoplastic Syndromes, Hereditary
- Neurofibromatosis 1
- Skin Neoplasms
- Syndrome
- Tuberous Sclerosis