Activation of the MAPK pathway (RASopathies) and partial growth hormone insensitivity
Author:
Funder
Conselho Nacional de Desenvolvimento Científico e Tecnológico
Publisher
Elsevier BV
Subject
Endocrinology,Molecular Biology,Biochemistry
Reference77 articles.
1. 'Gain-of-function mutations in RIT1 cause Noonan syndrome, a RAS/MAPK pathway syndrome;Aoki;Am. J. Hum. Genet.,2013
2. 'Recent advances in RASopathies;Aoki;J. Hum. Genet.,2016
3. 'Germline mutations in HRAS proto-oncogene cause Costello syndrome;Aoki;Nat. Genet.,2005
4. 'IGF-I generation test in prepubertal children with Noonan syndrome due to mutations in the PTPN11 gene;Bertelloni;Hormones (Basel),2013
5. 'PTPN11 mutations are associated with mild growth hormone resistance in individuals with Noonan syndrome;Binder;J. Clin. Endocrinol. Metab.,2005
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