Noonan syndrome

JE Allanson - American Journal of Medical Genetics Part C …, 2007 - Wiley Online Library
JE Allanson
American Journal of Medical Genetics Part C: Seminars in Medical …, 2007Wiley Online Library
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.© 2007 Wiley‐Liss, Inc.
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. © 2007 Wiley‐Liss, Inc.
Wiley Online Library