Article

Noonan syndrome

Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, Canada.
American Journal of Medical Genetics Part C Seminars in Medical Genetics (Impact Factor: 3.54). 08/2007; 145C(3):274-9. DOI: 10.1002/ajmg.c.30138
Source: PubMed

ABSTRACT Noonan syndrome is a common autosomal dominant condition caused by multiple genes in the RasMAPK pathway. The adult phenotype can be extremely subtle, and many adults are diagnosed only after the birth of a more obviously affected child. Whether diagnosis is made in childhood or adulthood, initial and ongoing evaluation of many systems can have considerable health benefits.

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