Article
Exclusion of allelism of Noonan syndrome and neurofibromatosis-type 1 in a large family with Noonan syndrome-neurofibromatosis association.
American journal of medical genetics - 18 Dec 1996
Bahuau M, Flintoff W, Assouline B, Lyonnet S, Le Merrer M, Prieur M, Guilloud-Bataille M, Feingold N, Munnich A, Vidaud M, Vidaud D
Abstract excerpt
A large four-generation family with Noonan syndrome (NS) and neurofibromatosis-type 1 (NF1) was studied for clinical association between the two diseases and for linkage analysis with polymorphic DNA markers of the NF1 region in 17q11.2. Nonrandom segregation between NS and NF1 phenotypes was obs...
Topics
- Alleles
- Chromosomes, Human, Pair 17
- Female
- Genes, Neurofibromatosis 1
- Genetic Linkage
- Genetic Markers
- Genotype
- Humans
- Infant
- Male
- Neurofibromatosis 1
- Noonan Syndrome
- Pedigree
- Phenotype
- Polymorphism, Genetic