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(Reference retrieved automatically from Web of Science through information on FAPESP grant and its corresponding number as mentioned in the publication by the authors.)

Noonan Syndrome and Related Disorders: A Review of Clinical Features and Mutations in Genes of the RAS/MAPK Pathway

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Author(s):
Jorge, Alexander A. L. [1] ; Malaquias, Alexsandra C. [1] ; Arnhold, Ivo J. P. [1] ; Mendonca, Berenice B. [1]
Total Authors: 4
Affiliation:
[1] Univ Sao Paulo, Fac Med, Disciplina Endocrinol, Lab Hormonios & Genet Mol LIM 42, Unidade Endocrin, Sao Paulo - Brazil
Total Affiliations: 1
Document type: Review article
Source: HORMONE RESEARCH; v. 71, n. 4, p. 185-193, 2009.
Web of Science Citations: 60
Abstract

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. Copyright (C) 2009 S. Karger AG, Basel (AU)

FAPESP's process: 05/04726-0 - Molecular characterization of congenital endocrine diseases that affect growth and development
Grantee:Ana Claudia Latronico Xavier
Support type: Research Projects - Thematic Grants