| Texto completo | |
| Autor(es): |
Jorge, Alexander A. L.
[1]
;
Malaquias, Alexsandra C.
[1]
;
Arnhold, Ivo J. P.
[1]
;
Mendonca, Berenice B.
[1]
Número total de Autores: 4
|
| Afiliação do(s) autor(es): | [1] Univ Sao Paulo, Fac Med, Disciplina Endocrinol, Lab Hormonios & Genet Mol LIM 42, Unidade Endocrin, Sao Paulo - Brazil
Número total de Afiliações: 1
|
| Tipo de documento: | Artigo de Revisão |
| Fonte: | HORMONE RESEARCH; v. 71, n. 4, p. 185-193, 2009. |
| Citações Web of Science: | 59 |
| Resumo | |
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) | |
| Processo FAPESP: | 07/59555-0 - Estudo da relação genótipo: fenótipo na síndrome de Noonan em pacientes com mutações identificadas nos genes PTPN11, RAF1, SOS1 e KRAS |
| Beneficiário: | Alexsandra Christianne Malaquias de Moura Ribeiro |
| Modalidade de apoio: | Bolsas no Brasil - Doutorado |
| Processo FAPESP: | 05/04726-0 - Caracterização molecular das doenças endócrinas congênitas que afetam o crescimento e o desenvolvimento |
| Beneficiário: | Ana Claudia Latronico Xavier |
| Modalidade de apoio: | Auxílio à Pesquisa - Temático |