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Growth Hormone insensitivity (Laron syndrome): Report of a new family and review of Brazilian patients

Laron’s syndrome (LS) is a rare genetic disorder characterized by insensitivity to growth hormone (GH). Up to the present time, over 70 mutations of GH receptor (GHR) gene have been identified leading to GH/insulin-like growth factor type 1 (IGF1) signaling pathway defect. The number of LS patients...

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Detalles Bibliográficos
Autores principales: Villela, Thais R., Freire, Bruna L., Braga, Nathalia T. P., Arantes, Rodrigo R., Funari, Mariana F. A., Alexander, Jorge A L, Silva, Ivani N.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Sociedade Brasileira de Genética 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7197995/
https://www.ncbi.nlm.nih.gov/pubmed/31429861
http://dx.doi.org/10.1590/1678-4685-GMB-2018-0197