Article
Absence of linkage of Noonan syndrome to the neurofibromatosis type 1 locus.
Journal of medical genetics - 1 Mar 1992
Sharland M, Taylor R, Patton M A, Jeffery S
Abstract excerpt
Eleven families with Noonan syndrome in either two or three generations have been identified. Following the reports of subjects with features of both Noonan syndrome and neurofibromatosis type 1, these pedigrees have been studied using a number of probes at the neurofibromatosis type 1 locus (17q11). A significantly negative lod score was obtained with the intragenic probe NF1-C2, suggesting that the genes for...
Topics
- Alleles
- Chromosomes, Human, Pair 17
- Female
- Genes, Neurofibromatosis 1
- Genetic Linkage
- Genetic Markers
- Humans
- Lod Score
- Male
- Neurofibromatosis 1
- Noonan Syndrome
- Pedigree