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

• Main Authors: Iffa Mutmainah (Author), Willy Nillesen (Author), Farmaditya Mundhofir (Author), Tri Winarni (Author), Ineke van der Burgt (Author), Helger Yntema (Author), Sultana Faradz (Author)
• Format: Book
• Published: Indonesian Pediatric Society Publishing House, 2016-05-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

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...