Document Detail


Noonan syndrome and related disorders: a review of clinical features and mutations in genes of the RAS/MAPK pathway.
MedLine Citation:
PMID:  19258709     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
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.
Authors:
Alexander A L Jorge; Alexsandra C Malaquias; Ivo J P Arnhold; Berenice B Mendonca
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't; Review     Date:  2009-03-04
Journal Detail:
Title:  Hormone research     Volume:  71     ISSN:  1423-0046     ISO Abbreviation:  Horm. Res.     Publication Date:  2009  
Date Detail:
Created Date:  2009-04-02     Completed Date:  2009-06-25     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  0366126     Medline TA:  Horm Res     Country:  Switzerland    
Other Details:
Languages:  eng     Pagination:  185-93     Citation Subset:  IM    
Copyright Information:
2009 S. Karger AG, Basel.
Affiliation:
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:
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:
12629-01-5/Human Growth Hormone; EC 3.6.5.2/ras Proteins

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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