The other side of Turner′s: Noonan′s syndrome
Autor: | Pankaj Agarwal, Rajeev Philip, Manish Gutch, K K Gupta |
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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 |
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