Clinical and molecular analysis of Noonan syndrome in Indonesia: a case report

Noonan syndrome (NS; OMIM#163950) is a relatively common autosomal dominant disorder with a worldwide prevalence of approximately 1:1,000 to 1:2,500. The syndrome is characterized by distinctive facial features, congenital heart defects (CHD), and short stature. Distinctive facial features consist o...

Full description

Bibliographic Details
Main Authors: Iffa Mutmainah, Willy Nillesen, Farmaditya Mundhofir, Tri Winarni, Ineke van der Burgt, Helger Yntema, Sultana Faradz
Format: Article
Language:English
Published: Indonesian Pediatric Society Publishing House 2016-05-01
Series:Paediatrica Indonesiana
Online Access:https://paediatricaindonesiana.org/index.php/paediatrica-indonesiana/article/view/81