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nsoon
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There are 5 letters in NSOON ( N1O1S1 )
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Nsoon might refer to |
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Noonan syndrome (NS) is a relatively common autosomal dominant congenital disorder and is named after Jacqueline Noonan, a pediatric cardiologist. It used to be referred to as a male version of Turner's syndrome; however, the genetic causes of Noonan syndrome are distinct from Turner syndrome and both males and females are affected. The principal features include congenital heart defect (typically pulmonary valve stenosis with dysplastic pulmonary valve also atrial septal defect and hypertrophic cardiomyopathy), short stature, learning problems, pectus excavatum, impaired blood clotting, and a characteristic configuration of facial features including a webbed neck and a flat nose bridge. NS is a RASopathy, and is one of several disorders that are caused by a disruption of RAS-MAPK signaling pathway. * It is believed that between approximately 1 in 1,000 and 1 in 2,500 children worldwide are born with NS. It is one of the most common genetic syndromes associated with congenital heart disease, similar in frequency to Down syndrome. However, the range and severity of features can vary greatly in patients with NS. Therefore, the syndrome is not always identified at an early age. |