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All Journal Paediatrica Indonesiana
Tri Winarni
Division of Human Genetics, Center for Biomedical Research (CEBIOR), Diponegoro University Medical School, Semarang, Indonesia
Health Professions Medicine & Pharmacology

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Clinical and molecular analysis of Noonan syndrome in Indonesia: a case report Iffa Mutmainah; Willy Nillesen; Farmaditya Mundhofir; Tri Winarni; Ineke van der Burgt; Helger Yntema; Sultana Faradz
Paediatrica Indonesiana Vol 56 No 1 (2016): January 2016
Publisher : Indonesian Pediatric Society

Show Abstract | Download Original | Original Source | Check in Google Scholar | Full PDF (488.374 KB) | DOI: 10.14238/pi56.1.2016.62-6

Abstract

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 of a broad and high forehead, hypertelorism, downslanting palpebral fissures, a high arched palate, low set and posteriorly rotated ears with a thick helix, and a short neck with excess nuchal skin and low posterior hairline. Additional relatively frequent features include chest deformities, cryptorchidism in males, mild intellectual disability, and bleeding diathesis.1,2In 2001, missense mutations in
Co-Authors Farmaditya Mundhofir Helger Yntema Iffa Mutmainah Ineke van der Burgt Sultana Faradz Willy Nillesen