Noonan Syndrome and Related Disorders: A Review of Clinical Features and Mutations in Genes of the RAS/MAPK Pathway
書誌事項
- 公開日
- 2009
- 権利情報
-
- https://www.karger.com/Services/SiteLicenses
- https://www.karger.com/Services/SiteLicenses
- DOI
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- 10.1159/000201106
- 公開者
- S. Karger AG
この論文をさがす
説明
<jats:p>Noonan syndrome (NS) is one of the most common syndromes transmitted by a mendelian mode. In recent years, germline mutations that affect components of the RAS-MAPK (mitogen-activated protein kinase) pathway were shown to be involved in the pathogenesis of NS and four rare syndromes with clinical features overlapping with NS: Leopard syndrome, cardio-facio-cutaneous syndrome, Costello syndrome and neurofibromatosis type 1. Several hormones act through receptors that stimulate the RAS-MAPK pathway, and therefore, NS and related disorders represent a remarkable opportunity to study the implication of the RAS-MAPK pathway in different endocrine systems. Additionally, children with NS frequently are referred to the endocrinologist because of short stature, delayed puberty and/or undescended testes in males. In this paper, we review the diagnostic, clinical and molecular aspects of NS and NS-related disorders.</jats:p>
収録刊行物
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- Hormone Research in Paediatrics
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Hormone Research in Paediatrics 71 (4), 185-193, 2009
S. Karger AG
