... allow the detection of patients within the full genetic spectrum, that is, intragenic variants and enhancer region deletions. Short stature homeobox-containing gene deficiency Genetic screening Clinical features Gene enhancer mutation © 2020 The Author(s) Published by S. Karger AG, Basel...

...T. Rohrer Noonan syndrome (NS) is a fairly common (1 per 1,000–2,500 live births) autosomal dominantly inherited disorder and the most common syndromal cause of congenital heart disease after Down’s syndrome. The clinical features vary with age, but typical signs of NS include characteristic facial...