| Noonan syndrome and related disorders: a review of clinical features and mutations in genes of the RAS/MAPK pathway. | |
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MedLine Citation:
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PMID: 19258709 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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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. |
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Authors:
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Alexander A L Jorge; Alexsandra C Malaquias; Ivo J P Arnhold; Berenice B Mendonca |
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Publication Detail:
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Type: Journal Article; Research Support, Non-U.S. Gov't; Review Date: 2009-03-04 |
Journal Detail:
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Title: Hormone research Volume: 71 ISSN: 1423-0046 ISO Abbreviation: Horm. Res. Publication Date: 2009 |
Date Detail:
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Created Date: 2009-04-02 Completed Date: 2009-06-25 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 0366126 Medline TA: Horm Res Country: Switzerland |
Other Details:
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Languages: eng Pagination: 185-93 Citation Subset: IM |
Copyright Information:
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2009 S. Karger AG, Basel. |
Affiliation:
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Unidade de Endocrinologia do Desenvolvimento, Laboratorio de Hormonios e Genetica Molecular LIM/42, Disciplina de Endocrinologia da Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brazil. alexj@usp.br |
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| MeSH Terms | |
Descriptor/Qualifier:
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Diagnosis, Differential Female Genes, ras* Germ-Line Mutation Human Growth Hormone / physiology Humans MAP Kinase Signaling System / genetics*, physiology Male Neoplasms / genetics Noonan Syndrome / diagnosis, genetics* ras Proteins / genetics, physiology |
| Chemical | |
Reg. No./Substance:
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12629-01-5/Human Growth Hormone; EC 3.6.5.2/ras Proteins |
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