Article
Fine mapping of Noonan/cardio-facio cutaneous syndrome in a large family.
European journal of human genetics : EJHG - 1 Jan 1998
Legius E, Schollen E, Matthijs G, Fryns J P
Abstract excerpt
Noonan syndrome (NS) is an autosomal dominant condition with facial dysmorphy, congenital cardiac defects and short stature. A gene for NS has previously been linked to a 14 cM region in 12q24. We performed linkage analysis in a four generation Belgian family with NS in some individuals and cardi...
Topics
- Abnormalities, Multiple
- Chromosomes, Human, Pair 12
- Face
- Female
- Genetic Linkage
- Genotype
- Heart Defects, Congenital
- Humans
- Lod Score
- Male
- Noonan Syndrome
- Pedigree
- Skin Abnormalities
- Syndrome