The other side of Turner′s: Noonan′s syndrome

Autor: Pankaj Agarwal, Rajeev Philip, Manish Gutch, K K Gupta
Jazyk: angličtina
Rok vydání: 2013
Předmět:
Zdroj: Indian Journal of Endocrinology and Metabolism, Vol 17, Iss 5, Pp 794-798 (2013)
Druh dokumentu: article
ISSN: 2230-8210
2230-9500
DOI: 10.4103/2230-8210.117197
Popis: Noonan Syndrome (NS) is an autosomal dominant disorder characterized by short stature, typical face dysmorphology, and congenital heart defects. NS is a clinical diagnosis. Establishing the diagnosis can be very difficult, especially in adulthood. There is a great variability in expression, and the phenotype becomes less pronounced with increasing age.
Databáze: Directory of Open Access Journals