Growth defects in noonan syndrome

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2012
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Scopus
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SPRINGER NEW YORK
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Malaquias, A. C.; Jorge, A. A. L.. Growth defects in noonan syndrome. In: . HANDBOOK OF GROWTH AND GROWTH MONITORING IN HEALTH AND DISEASE: SPRINGER NEW YORK, 2012. p.2201-2215.
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Noonan syndrome is one of the most common syndromes transmitted by a Mendelian mode and is mainly characterized by dysmorphic facial features, congenital heart disease, and proportionate postnatal short stature. In recent years, germline mutations that affect components of the RAS/MAPK (mitogen-activated protein kinase) pathway as PTPN11, KRAS, SOS1, and RAF1 genes were shown to be involved in the pathogenesis of Noonan syndrome as well as of four rare syndromes with phenotype overlapping with Noonan syndrome: LEOPARD syndrome, cardiofaciocutaneous syndrome, Costello syndrome, and neurofibromatosis type 1. These mutations are predicted to be gain-of-function defects increasing signaling down the RAS/MAPK pathway. Some genotype-phenotype correlation has been reported in Noonan syndrome patients, allowing screening for mutations in Noonan syndrome-related genes based on clinical signs. Several hormones act through receptors that stimulate the RAS/MAPK pathway, and therefore, Noonan syndrome and related disorders represent a remarkable opportunity to study the implication of the RAS/MAPK pathway in different endocrine systems, including the GH/IGF-1 system. Additionally, similarly to Turner syndrome, growth velocity and final height of Noonan syndrome patients can be improved by recombinant human growth hormone treatment. In this chapter, we review the diagnostic, clinical, and molecular aspects of Noonan syndrome and rhGH treatment of short stature in these patients. © Springer Science+Business Media, LLC 2012. All rights reserved.
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https://observatorio.fm.usp.br/handle/OPI/51064
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Coleções
Livros e Capítulos de Livros - FM/MCM
Livros e Capítulos de Livros - LIM/25
Livros e Capítulos de Livros - LIM/42